SNP Links for Protein (Select 1034633917) - SNP

Links from Protein

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Select item 14903505231.

rs1490350523 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:142703936 (GRCh38)
3:142422778 (GRCh37)
Canonical SPDI:: NC_000003.12:142703935:T:G
Gene:: PLS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.142703936T>G, NC_000003.11:g.142422778T>G, XM_006713660.4:c.1440T>G, XM_006713660.3:c.1440T>G, XM_006713660.2:c.1440T>G, XM_006713660.1:c.1440T>G, XM_011512900.3:c.1440T>G, XM_011512900.2:c.1440T>G, XM_011512900.1:c.1440T>G, XM_011512903.3:c.1440T>G, XM_011512903.2:c.1440T>G, XM_011512903.1:c.1440T>G, NM_002670.3:c.1440T>G, NM_002670.2:c.1440T>G, XM_011512901.2:c.1440T>G, XM_011512901.1:c.1440T>G, XM_017006627.2:c.1440T>G, XM_017006627.1:c.1440T>G, NM_001172312.2:c.1440T>G, NM_001172312.1:c.1440T>G, NM_001145319.2:c.1440T>G, NM_001145319.1:c.1440T>G, XM_047448326.1:c.1440T>G, XM_047448328.1:c.1440T>G, XM_047448322.1:c.1440T>G, XM_047448327.1:c.1440T>G, XM_047448323.1:c.1440T>G, XM_047448324.1:c.1440T>G, XM_047448321.1:c.1440T>G, XM_047448325.1:c.1440T>G

Select item 14866945302.

rs1486694530 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:142676207 (GRCh38)
3:142395049 (GRCh37)
Canonical SPDI:: NC_000003.12:142676206:G:A
Gene:: PLS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.142676207G>A, NC_000003.11:g.142395049G>A, XM_006713660.4:c.415G>A, XM_006713660.3:c.415G>A, XM_006713660.2:c.415G>A, XM_006713660.1:c.415G>A, XM_011512900.3:c.415G>A, XM_011512900.2:c.415G>A, XM_011512900.1:c.415G>A, XM_011512903.3:c.415G>A, XM_011512903.2:c.415G>A, XM_011512903.1:c.415G>A, NM_002670.3:c.415G>A, NM_002670.2:c.415G>A, XM_011512901.2:c.415G>A, XM_011512901.1:c.415G>A, XM_017006627.2:c.415G>A, XM_017006627.1:c.415G>A, NM_001172312.2:c.415G>A, NM_001172312.1:c.415G>A, NM_001145319.2:c.415G>A, NM_001145319.1:c.415G>A, XM_047448326.1:c.415G>A, XM_047448328.1:c.415G>A, XM_047448322.1:c.415G>A, XM_047448327.1:c.415G>A, XM_047448323.1:c.415G>A, XM_047448324.1:c.415G>A, XM_047448321.1:c.415G>A, XM_047448325.1:c.415G>A, XP_006713723.1:p.Asp139Asn, XP_011511202.1:p.Asp139Asn, XP_011511205.1:p.Asp139Asn, NP_002661.2:p.Asp139Asn, XP_011511203.1:p.Asp139Asn, XP_016862116.1:p.Asp139Asn, NP_001165783.1:p.Asp139Asn, NP_001138791.1:p.Asp139Asn, XP_047304282.1:p.Asp139Asn, XP_047304284.1:p.Asp139Asn, XP_047304278.1:p.Asp139Asn, XP_047304283.1:p.Asp139Asn, XP_047304279.1:p.Asp139Asn, XP_047304280.1:p.Asp139Asn, XP_047304277.1:p.Asp139Asn, XP_047304281.1:p.Asp139Asn

Select item 14844057283.

rs1484405728 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 3:142669439 (GRCh38)
3:142388281 (GRCh37)
Canonical SPDI:: NC_000003.12:142669438:T:A,NC_000003.12:142669438:T:G
Gene:: PLS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00005/7 (GnomAD)
G=0.00006/16 (TOPMED)
HGVS:: NC_000003.12:g.142669439T>A, NC_000003.12:g.142669439T>G, NC_000003.11:g.142388281T>A, NC_000003.11:g.142388281T>G, XM_006713660.4:c.120T>A, XM_006713660.4:c.120T>G, XM_006713660.3:c.120T>A, XM_006713660.3:c.120T>G, XM_006713660.2:c.120T>A, XM_006713660.2:c.120T>G, XM_006713660.1:c.120T>A, XM_006713660.1:c.120T>G, XM_011512900.3:c.120T>A, XM_011512900.3:c.120T>G, XM_011512900.2:c.120T>A, XM_011512900.2:c.120T>G, XM_011512900.1:c.120T>A, XM_011512900.1:c.120T>G, XM_011512903.3:c.120T>A, XM_011512903.3:c.120T>G, XM_011512903.2:c.120T>A, XM_011512903.2:c.120T>G, XM_011512903.1:c.120T>A, XM_011512903.1:c.120T>G, NM_002670.3:c.120T>A, NM_002670.3:c.120T>G, NM_002670.2:c.120T>A, NM_002670.2:c.120T>G, XM_011512901.2:c.120T>A, XM_011512901.2:c.120T>G, XM_011512901.1:c.120T>A, XM_011512901.1:c.120T>G, XM_017006627.2:c.120T>A, XM_017006627.2:c.120T>G, XM_017006627.1:c.120T>A, XM_017006627.1:c.120T>G, NM_001172312.2:c.120T>A, NM_001172312.2:c.120T>G, NM_001172312.1:c.120T>A, NM_001172312.1:c.120T>G, NM_001145319.2:c.120T>A, NM_001145319.2:c.120T>G, NM_001145319.1:c.120T>A, NM_001145319.1:c.120T>G, XM_047448326.1:c.120T>A, XM_047448326.1:c.120T>G, XM_047448328.1:c.120T>A, XM_047448328.1:c.120T>G, XM_047448322.1:c.120T>A, XM_047448322.1:c.120T>G, XM_047448327.1:c.120T>A, XM_047448327.1:c.120T>G, XM_047448323.1:c.120T>A, XM_047448323.1:c.120T>G, XM_047448324.1:c.120T>A, XM_047448324.1:c.120T>G, XM_047448321.1:c.120T>A, XM_047448321.1:c.120T>G, XM_047448325.1:c.120T>A, XM_047448325.1:c.120T>G, XP_006713723.1:p.Phe40Leu, XP_006713723.1:p.Phe40Leu, XP_011511202.1:p.Phe40Leu, XP_011511202.1:p.Phe40Leu, XP_011511205.1:p.Phe40Leu, XP_011511205.1:p.Phe40Leu, NP_002661.2:p.Phe40Leu, NP_002661.2:p.Phe40Leu, XP_011511203.1:p.Phe40Leu, XP_011511203.1:p.Phe40Leu, XP_016862116.1:p.Phe40Leu, XP_016862116.1:p.Phe40Leu, NP_001165783.1:p.Phe40Leu, NP_001165783.1:p.Phe40Leu, NP_001138791.1:p.Phe40Leu, NP_001138791.1:p.Phe40Leu, XP_047304282.1:p.Phe40Leu, XP_047304282.1:p.Phe40Leu, XP_047304284.1:p.Phe40Leu, XP_047304284.1:p.Phe40Leu, XP_047304278.1:p.Phe40Leu, XP_047304278.1:p.Phe40Leu, XP_047304283.1:p.Phe40Leu, XP_047304283.1:p.Phe40Leu, XP_047304279.1:p.Phe40Leu, XP_047304279.1:p.Phe40Leu, XP_047304280.1:p.Phe40Leu, XP_047304280.1:p.Phe40Leu, XP_047304277.1:p.Phe40Leu, XP_047304277.1:p.Phe40Leu, XP_047304281.1:p.Phe40Leu, XP_047304281.1:p.Phe40Leu

Select item 14839029494.

rs1483902949 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:142703938 (GRCh38)
3:142422780 (GRCh37)
Canonical SPDI:: NC_000003.12:142703937:G:A
Gene:: PLS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.142703938G>A, NC_000003.11:g.142422780G>A, XM_006713660.4:c.1442G>A, XM_006713660.3:c.1442G>A, XM_006713660.2:c.1442G>A, XM_006713660.1:c.1442G>A, XM_011512900.3:c.1442G>A, XM_011512900.2:c.1442G>A, XM_011512900.1:c.1442G>A, XM_011512903.3:c.1442G>A, XM_011512903.2:c.1442G>A, XM_011512903.1:c.1442G>A, NM_002670.3:c.1442G>A, NM_002670.2:c.1442G>A, XM_011512901.2:c.1442G>A, XM_011512901.1:c.1442G>A, XM_017006627.2:c.1442G>A, XM_017006627.1:c.1442G>A, NM_001172312.2:c.1442G>A, NM_001172312.1:c.1442G>A, NM_001145319.2:c.1442G>A, NM_001145319.1:c.1442G>A, XM_047448326.1:c.1442G>A, XM_047448328.1:c.1442G>A, XM_047448322.1:c.1442G>A, XM_047448327.1:c.1442G>A, XM_047448323.1:c.1442G>A, XM_047448324.1:c.1442G>A, XM_047448321.1:c.1442G>A, XM_047448325.1:c.1442G>A, XP_006713723.1:p.Gly481Glu, XP_011511202.1:p.Gly481Glu, XP_011511205.1:p.Gly481Glu, NP_002661.2:p.Gly481Glu, XP_011511203.1:p.Gly481Glu, XP_016862116.1:p.Gly481Glu, NP_001165783.1:p.Gly481Glu, NP_001138791.1:p.Gly481Glu, XP_047304282.1:p.Gly481Glu, XP_047304284.1:p.Gly481Glu, XP_047304278.1:p.Gly481Glu, XP_047304283.1:p.Gly481Glu, XP_047304279.1:p.Gly481Glu, XP_047304280.1:p.Gly481Glu, XP_047304277.1:p.Gly481Glu, XP_047304281.1:p.Gly481Glu

Select item 14827315775.

rs1482731577 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:142694538 (GRCh38)
3:142413380 (GRCh37)
Canonical SPDI:: NC_000003.12:142694537:A:G
Gene:: PLS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.142694538A>G, NC_000003.11:g.142413380A>G, XM_006713660.4:c.1247A>G, XM_006713660.3:c.1247A>G, XM_006713660.2:c.1247A>G, XM_006713660.1:c.1247A>G, XM_011512900.3:c.1247A>G, XM_011512900.2:c.1247A>G, XM_011512900.1:c.1247A>G, XM_011512903.3:c.1247A>G, XM_011512903.2:c.1247A>G, XM_011512903.1:c.1247A>G, NM_002670.3:c.1247A>G, NM_002670.2:c.1247A>G, XM_011512901.2:c.1247A>G, XM_011512901.1:c.1247A>G, XM_017006627.2:c.1247A>G, XM_017006627.1:c.1247A>G, NM_001172312.2:c.1247A>G, NM_001172312.1:c.1247A>G, NM_001145319.2:c.1247A>G, NM_001145319.1:c.1247A>G, XM_047448326.1:c.1247A>G, XM_047448328.1:c.1247A>G, XM_047448322.1:c.1247A>G, XM_047448327.1:c.1247A>G, XM_047448323.1:c.1247A>G, XM_047448324.1:c.1247A>G, XM_047448321.1:c.1247A>G, XM_047448325.1:c.1247A>G, XP_006713723.1:p.His416Arg, XP_011511202.1:p.His416Arg, XP_011511205.1:p.His416Arg, NP_002661.2:p.His416Arg, XP_011511203.1:p.His416Arg, XP_016862116.1:p.His416Arg, NP_001165783.1:p.His416Arg, NP_001138791.1:p.His416Arg, XP_047304282.1:p.His416Arg, XP_047304284.1:p.His416Arg, XP_047304278.1:p.His416Arg, XP_047304283.1:p.His416Arg, XP_047304279.1:p.His416Arg, XP_047304280.1:p.His416Arg, XP_047304277.1:p.His416Arg, XP_047304281.1:p.His416Arg

Select item 14725865366.

rs1472586536 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:142694470 (GRCh38)
3:142413312 (GRCh37)
Canonical SPDI:: NC_000003.12:142694469:A:G
Gene:: PLS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000094/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.142694470A>G, NC_000003.11:g.142413312A>G, XM_006713660.4:c.1179A>G, XM_006713660.3:c.1179A>G, XM_006713660.2:c.1179A>G, XM_006713660.1:c.1179A>G, XM_011512900.3:c.1179A>G, XM_011512900.2:c.1179A>G, XM_011512900.1:c.1179A>G, XM_011512903.3:c.1179A>G, XM_011512903.2:c.1179A>G, XM_011512903.1:c.1179A>G, NM_002670.3:c.1179A>G, NM_002670.2:c.1179A>G, XM_011512901.2:c.1179A>G, XM_011512901.1:c.1179A>G, XM_017006627.2:c.1179A>G, XM_017006627.1:c.1179A>G, NM_001172312.2:c.1179A>G, NM_001172312.1:c.1179A>G, NM_001145319.2:c.1179A>G, NM_001145319.1:c.1179A>G, XM_047448326.1:c.1179A>G, XM_047448328.1:c.1179A>G, XM_047448322.1:c.1179A>G, XM_047448327.1:c.1179A>G, XM_047448323.1:c.1179A>G, XM_047448324.1:c.1179A>G, XM_047448321.1:c.1179A>G, XM_047448325.1:c.1179A>G

Select item 14707365507.

rs1470736550 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:142694547 (GRCh38)
3:142413389 (GRCh37)
Canonical SPDI:: NC_000003.12:142694546:G:A
Gene:: PLS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.00005/1 (ALFA)
HGVS:: NC_000003.12:g.142694547G>A, NC_000003.11:g.142413389G>A, XM_006713660.4:c.1256G>A, XM_006713660.3:c.1256G>A, XM_006713660.2:c.1256G>A, XM_006713660.1:c.1256G>A, XM_011512900.3:c.1256G>A, XM_011512900.2:c.1256G>A, XM_011512900.1:c.1256G>A, XM_011512903.3:c.1256G>A, XM_011512903.2:c.1256G>A, XM_011512903.1:c.1256G>A, NM_002670.3:c.1256G>A, NM_002670.2:c.1256G>A, XM_011512901.2:c.1256G>A, XM_011512901.1:c.1256G>A, XM_017006627.2:c.1256G>A, XM_017006627.1:c.1256G>A, NM_001172312.2:c.1256G>A, NM_001172312.1:c.1256G>A, NM_001145319.2:c.1256G>A, NM_001145319.1:c.1256G>A, XM_047448326.1:c.1256G>A, XM_047448328.1:c.1256G>A, XM_047448322.1:c.1256G>A, XM_047448327.1:c.1256G>A, XM_047448323.1:c.1256G>A, XM_047448324.1:c.1256G>A, XM_047448321.1:c.1256G>A, XM_047448325.1:c.1256G>A, XP_006713723.1:p.Ser419Asn, XP_011511202.1:p.Ser419Asn, XP_011511205.1:p.Ser419Asn, NP_002661.2:p.Ser419Asn, XP_011511203.1:p.Ser419Asn, XP_016862116.1:p.Ser419Asn, NP_001165783.1:p.Ser419Asn, NP_001138791.1:p.Ser419Asn, XP_047304282.1:p.Ser419Asn, XP_047304284.1:p.Ser419Asn, XP_047304278.1:p.Ser419Asn, XP_047304283.1:p.Ser419Asn, XP_047304279.1:p.Ser419Asn, XP_047304280.1:p.Ser419Asn, XP_047304277.1:p.Ser419Asn, XP_047304281.1:p.Ser419Asn

Select item 14702280968.

rs1470228096 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:142698060 (GRCh38)
3:142416902 (GRCh37)
Canonical SPDI:: NC_000003.12:142698059:T:C
Gene:: PLS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.142698060T>C, NC_000003.11:g.142416902T>C, XM_006713660.4:c.1364T>C, XM_006713660.3:c.1364T>C, XM_006713660.2:c.1364T>C, XM_006713660.1:c.1364T>C, XM_011512900.3:c.1364T>C, XM_011512900.2:c.1364T>C, XM_011512900.1:c.1364T>C, XM_011512903.3:c.1364T>C, XM_011512903.2:c.1364T>C, XM_011512903.1:c.1364T>C, NM_002670.3:c.1364T>C, NM_002670.2:c.1364T>C, XM_011512901.2:c.1364T>C, XM_011512901.1:c.1364T>C, XM_017006627.2:c.1364T>C, XM_017006627.1:c.1364T>C, NM_001172312.2:c.1364T>C, NM_001172312.1:c.1364T>C, NM_001145319.2:c.1364T>C, NM_001145319.1:c.1364T>C, XM_047448326.1:c.1364T>C, XM_047448328.1:c.1364T>C, XM_047448322.1:c.1364T>C, XM_047448327.1:c.1364T>C, XM_047448323.1:c.1364T>C, XM_047448324.1:c.1364T>C, XM_047448321.1:c.1364T>C, XM_047448325.1:c.1364T>C, XP_006713723.1:p.Met455Thr, XP_011511202.1:p.Met455Thr, XP_011511205.1:p.Met455Thr, NP_002661.2:p.Met455Thr, XP_011511203.1:p.Met455Thr, XP_016862116.1:p.Met455Thr, NP_001165783.1:p.Met455Thr, NP_001138791.1:p.Met455Thr, XP_047304282.1:p.Met455Thr, XP_047304284.1:p.Met455Thr, XP_047304278.1:p.Met455Thr, XP_047304283.1:p.Met455Thr, XP_047304279.1:p.Met455Thr, XP_047304280.1:p.Met455Thr, XP_047304277.1:p.Met455Thr, XP_047304281.1:p.Met455Thr

Select item 14677933599.

rs1467793359 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:142686335 (GRCh38)
3:142405177 (GRCh37)
Canonical SPDI:: NC_000003.12:142686334:G:A
Gene:: PLS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000106/2 (TOMMO)
HGVS:: NC_000003.12:g.142686335G>A, NC_000003.11:g.142405177G>A, XM_006713660.4:c.940G>A, XM_006713660.3:c.940G>A, XM_006713660.2:c.940G>A, XM_006713660.1:c.940G>A, XM_011512900.3:c.940G>A, XM_011512900.2:c.940G>A, XM_011512900.1:c.940G>A, XM_011512903.3:c.940G>A, XM_011512903.2:c.940G>A, XM_011512903.1:c.940G>A, NM_002670.3:c.940G>A, NM_002670.2:c.940G>A, XM_011512901.2:c.940G>A, XM_011512901.1:c.940G>A, XM_017006627.2:c.940G>A, XM_017006627.1:c.940G>A, NM_001172312.2:c.940G>A, NM_001172312.1:c.940G>A, NM_001145319.2:c.940G>A, NM_001145319.1:c.940G>A, XM_047448326.1:c.940G>A, XM_047448328.1:c.940G>A, XM_047448322.1:c.940G>A, XM_047448327.1:c.940G>A, XM_047448323.1:c.940G>A, XM_047448324.1:c.940G>A, XM_047448321.1:c.940G>A, XM_047448325.1:c.940G>A, XP_006713723.1:p.Glu314Lys, XP_011511202.1:p.Glu314Lys, XP_011511205.1:p.Glu314Lys, NP_002661.2:p.Glu314Lys, XP_011511203.1:p.Glu314Lys, XP_016862116.1:p.Glu314Lys, NP_001165783.1:p.Glu314Lys, NP_001138791.1:p.Glu314Lys, XP_047304282.1:p.Glu314Lys, XP_047304284.1:p.Glu314Lys, XP_047304278.1:p.Glu314Lys, XP_047304283.1:p.Glu314Lys, XP_047304279.1:p.Glu314Lys, XP_047304280.1:p.Glu314Lys, XP_047304277.1:p.Glu314Lys, XP_047304281.1:p.Glu314Lys

Select item 146754487410.

rs1467544874 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:142689619 (GRCh38)
3:142408461 (GRCh37)
Canonical SPDI:: NC_000003.12:142689618:A:G
Gene:: PLS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.142689619A>G, NC_000003.11:g.142408461A>G, XM_006713660.4:c.983A>G, XM_006713660.3:c.983A>G, XM_006713660.2:c.983A>G, XM_006713660.1:c.983A>G, XM_011512900.3:c.983A>G, XM_011512900.2:c.983A>G, XM_011512900.1:c.983A>G, XM_011512903.3:c.983A>G, XM_011512903.2:c.983A>G, XM_011512903.1:c.983A>G, NM_002670.3:c.983A>G, NM_002670.2:c.983A>G, XM_011512901.2:c.983A>G, XM_011512901.1:c.983A>G, XM_017006627.2:c.983A>G, XM_017006627.1:c.983A>G, NM_001172312.2:c.983A>G, NM_001172312.1:c.983A>G, NM_001145319.2:c.983A>G, NM_001145319.1:c.983A>G, XM_047448326.1:c.983A>G, XM_047448328.1:c.983A>G, XM_047448322.1:c.983A>G, XM_047448327.1:c.983A>G, XM_047448323.1:c.983A>G, XM_047448324.1:c.983A>G, XM_047448321.1:c.983A>G, XM_047448325.1:c.983A>G, XP_006713723.1:p.Glu328Gly, XP_011511202.1:p.Glu328Gly, XP_011511205.1:p.Glu328Gly, NP_002661.2:p.Glu328Gly, XP_011511203.1:p.Glu328Gly, XP_016862116.1:p.Glu328Gly, NP_001165783.1:p.Glu328Gly, NP_001138791.1:p.Glu328Gly, XP_047304282.1:p.Glu328Gly, XP_047304284.1:p.Glu328Gly, XP_047304278.1:p.Glu328Gly, XP_047304283.1:p.Glu328Gly, XP_047304279.1:p.Glu328Gly, XP_047304280.1:p.Glu328Gly, XP_047304277.1:p.Glu328Gly, XP_047304281.1:p.Glu328Gly

Select item 146678160411.

rs1466781604 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:142669400 (GRCh38)
3:142388242 (GRCh37)
Canonical SPDI:: NC_000003.12:142669399:T:C
Gene:: PLS1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.142669400T>C, NC_000003.11:g.142388242T>C, XM_006713660.4:c.81T>C, XM_006713660.3:c.81T>C, XM_006713660.2:c.81T>C, XM_006713660.1:c.81T>C, XM_011512900.3:c.81T>C, XM_011512900.2:c.81T>C, XM_011512900.1:c.81T>C, XM_011512903.3:c.81T>C, XM_011512903.2:c.81T>C, XM_011512903.1:c.81T>C, NM_002670.3:c.81T>C, NM_002670.2:c.81T>C, XM_011512901.2:c.81T>C, XM_011512901.1:c.81T>C, XM_017006627.2:c.81T>C, XM_017006627.1:c.81T>C, NM_001172312.2:c.81T>C, NM_001172312.1:c.81T>C, NM_001145319.2:c.81T>C, NM_001145319.1:c.81T>C, XM_047448326.1:c.81T>C, XM_047448328.1:c.81T>C, XM_047448322.1:c.81T>C, XM_047448327.1:c.81T>C, XM_047448323.1:c.81T>C, XM_047448324.1:c.81T>C, XM_047448321.1:c.81T>C, XM_047448325.1:c.81T>C

Select item 146415953412.

rs1464159534 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:142689799 (GRCh38)
3:142408641 (GRCh37)
Canonical SPDI:: NC_000003.12:142689798:T:C
Gene:: PLS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.142689799T>C, NC_000003.11:g.142408641T>C, XM_006713660.4:c.1163T>C, XM_006713660.3:c.1163T>C, XM_006713660.2:c.1163T>C, XM_006713660.1:c.1163T>C, XM_011512900.3:c.1163T>C, XM_011512900.2:c.1163T>C, XM_011512900.1:c.1163T>C, XM_011512903.3:c.1163T>C, XM_011512903.2:c.1163T>C, XM_011512903.1:c.1163T>C, NM_002670.3:c.1163T>C, NM_002670.2:c.1163T>C, XM_011512901.2:c.1163T>C, XM_011512901.1:c.1163T>C, XM_017006627.2:c.1163T>C, XM_017006627.1:c.1163T>C, NM_001172312.2:c.1163T>C, NM_001172312.1:c.1163T>C, NM_001145319.2:c.1163T>C, NM_001145319.1:c.1163T>C, XM_047448326.1:c.1163T>C, XM_047448328.1:c.1163T>C, XM_047448322.1:c.1163T>C, XM_047448327.1:c.1163T>C, XM_047448323.1:c.1163T>C, XM_047448324.1:c.1163T>C, XM_047448321.1:c.1163T>C, XM_047448325.1:c.1163T>C, XP_006713723.1:p.Met388Thr, XP_011511202.1:p.Met388Thr, XP_011511205.1:p.Met388Thr, NP_002661.2:p.Met388Thr, XP_011511203.1:p.Met388Thr, XP_016862116.1:p.Met388Thr, NP_001165783.1:p.Met388Thr, NP_001138791.1:p.Met388Thr, XP_047304282.1:p.Met388Thr, XP_047304284.1:p.Met388Thr, XP_047304278.1:p.Met388Thr, XP_047304283.1:p.Met388Thr, XP_047304279.1:p.Met388Thr, XP_047304280.1:p.Met388Thr, XP_047304277.1:p.Met388Thr, XP_047304281.1:p.Met388Thr

Select item 146384321913.

rs1463843219 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:142686317 (GRCh38)
3:142405159 (GRCh37)
Canonical SPDI:: NC_000003.12:142686316:A:C
Gene:: PLS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.142686317A>C, NC_000003.11:g.142405159A>C, XM_006713660.4:c.922A>C, XM_006713660.3:c.922A>C, XM_006713660.2:c.922A>C, XM_006713660.1:c.922A>C, XM_011512900.3:c.922A>C, XM_011512900.2:c.922A>C, XM_011512900.1:c.922A>C, XM_011512903.3:c.922A>C, XM_011512903.2:c.922A>C, XM_011512903.1:c.922A>C, NM_002670.3:c.922A>C, NM_002670.2:c.922A>C, XM_011512901.2:c.922A>C, XM_011512901.1:c.922A>C, XM_017006627.2:c.922A>C, XM_017006627.1:c.922A>C, NM_001172312.2:c.922A>C, NM_001172312.1:c.922A>C, NM_001145319.2:c.922A>C, NM_001145319.1:c.922A>C, XM_047448326.1:c.922A>C, XM_047448328.1:c.922A>C, XM_047448322.1:c.922A>C, XM_047448327.1:c.922A>C, XM_047448323.1:c.922A>C, XM_047448324.1:c.922A>C, XM_047448321.1:c.922A>C, XM_047448325.1:c.922A>C, XP_006713723.1:p.Ile308Leu, XP_011511202.1:p.Ile308Leu, XP_011511205.1:p.Ile308Leu, NP_002661.2:p.Ile308Leu, XP_011511203.1:p.Ile308Leu, XP_016862116.1:p.Ile308Leu, NP_001165783.1:p.Ile308Leu, NP_001138791.1:p.Ile308Leu, XP_047304282.1:p.Ile308Leu, XP_047304284.1:p.Ile308Leu, XP_047304278.1:p.Ile308Leu, XP_047304283.1:p.Ile308Leu, XP_047304279.1:p.Ile308Leu, XP_047304280.1:p.Ile308Leu, XP_047304277.1:p.Ile308Leu, XP_047304281.1:p.Ile308Leu

Select item 146041721314.

rs1460417213 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:142678101 (GRCh38)
3:142396943 (GRCh37)
Canonical SPDI:: NC_000003.12:142678100:A:G
Gene:: PLS1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.142678101A>G, NC_000003.11:g.142396943A>G, XM_006713660.4:c.567A>G, XM_006713660.3:c.567A>G, XM_006713660.2:c.567A>G, XM_006713660.1:c.567A>G, XM_011512900.3:c.567A>G, XM_011512900.2:c.567A>G, XM_011512900.1:c.567A>G, XM_011512903.3:c.567A>G, XM_011512903.2:c.567A>G, XM_011512903.1:c.567A>G, NM_002670.3:c.567A>G, NM_002670.2:c.567A>G, XM_011512901.2:c.567A>G, XM_011512901.1:c.567A>G, XM_017006627.2:c.567A>G, XM_017006627.1:c.567A>G, NM_001172312.2:c.567A>G, NM_001172312.1:c.567A>G, NM_001145319.2:c.567A>G, NM_001145319.1:c.567A>G, XM_047448326.1:c.567A>G, XM_047448328.1:c.567A>G, XM_047448322.1:c.567A>G, XM_047448327.1:c.567A>G, XM_047448323.1:c.567A>G, XM_047448324.1:c.567A>G, XM_047448321.1:c.567A>G, XM_047448325.1:c.567A>G

Select item 145971100215.

rs1459711002 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:142678048 (GRCh38)
3:142396890 (GRCh37)
Canonical SPDI:: NC_000003.12:142678047:T:C
Gene:: PLS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000005/1 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.142678048T>C, NC_000003.11:g.142396890T>C, XM_006713660.4:c.514T>C, XM_006713660.3:c.514T>C, XM_006713660.2:c.514T>C, XM_006713660.1:c.514T>C, XM_011512900.3:c.514T>C, XM_011512900.2:c.514T>C, XM_011512900.1:c.514T>C, XM_011512903.3:c.514T>C, XM_011512903.2:c.514T>C, XM_011512903.1:c.514T>C, NM_002670.3:c.514T>C, NM_002670.2:c.514T>C, XM_011512901.2:c.514T>C, XM_011512901.1:c.514T>C, XM_017006627.2:c.514T>C, XM_017006627.1:c.514T>C, NM_001172312.2:c.514T>C, NM_001172312.1:c.514T>C, NM_001145319.2:c.514T>C, NM_001145319.1:c.514T>C, XM_047448326.1:c.514T>C, XM_047448328.1:c.514T>C, XM_047448322.1:c.514T>C, XM_047448327.1:c.514T>C, XM_047448323.1:c.514T>C, XM_047448324.1:c.514T>C, XM_047448321.1:c.514T>C, XM_047448325.1:c.514T>C, XP_006713723.1:p.Ser172Pro, XP_011511202.1:p.Ser172Pro, XP_011511205.1:p.Ser172Pro, NP_002661.2:p.Ser172Pro, XP_011511203.1:p.Ser172Pro, XP_016862116.1:p.Ser172Pro, NP_001165783.1:p.Ser172Pro, NP_001138791.1:p.Ser172Pro, XP_047304282.1:p.Ser172Pro, XP_047304284.1:p.Ser172Pro, XP_047304278.1:p.Ser172Pro, XP_047304283.1:p.Ser172Pro, XP_047304279.1:p.Ser172Pro, XP_047304280.1:p.Ser172Pro, XP_047304277.1:p.Ser172Pro, XP_047304281.1:p.Ser172Pro

Select item 145954533016.

rs1459545330 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:142684317 (GRCh38)
3:142403159 (GRCh37)
Canonical SPDI:: NC_000003.12:142684316:A:G
Gene:: PLS1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000054/1 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000003.12:g.142684317A>G, NC_000003.11:g.142403159A>G, XM_006713660.4:c.810A>G, XM_006713660.3:c.810A>G, XM_006713660.2:c.810A>G, XM_006713660.1:c.810A>G, XM_011512900.3:c.810A>G, XM_011512900.2:c.810A>G, XM_011512900.1:c.810A>G, XM_011512903.3:c.810A>G, XM_011512903.2:c.810A>G, XM_011512903.1:c.810A>G, NM_002670.3:c.810A>G, NM_002670.2:c.810A>G, XM_011512901.2:c.810A>G, XM_011512901.1:c.810A>G, XM_017006627.2:c.810A>G, XM_017006627.1:c.810A>G, NM_001172312.2:c.810A>G, NM_001172312.1:c.810A>G, NM_001145319.2:c.810A>G, NM_001145319.1:c.810A>G, XM_047448326.1:c.810A>G, XM_047448328.1:c.810A>G, XM_047448322.1:c.810A>G, XM_047448327.1:c.810A>G, XM_047448323.1:c.810A>G, XM_047448324.1:c.810A>G, XM_047448321.1:c.810A>G, XM_047448325.1:c.810A>G

Select item 145909205717.

rs1459092057 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:142694497 (GRCh38)
3:142413339 (GRCh37)
Canonical SPDI:: NC_000003.12:142694496:G:A,NC_000003.12:142694496:G:C
Gene:: PLS1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.142694497G>A, NC_000003.12:g.142694497G>C, NC_000003.11:g.142413339G>A, NC_000003.11:g.142413339G>C, XM_006713660.4:c.1206G>A, XM_006713660.4:c.1206G>C, XM_006713660.3:c.1206G>A, XM_006713660.3:c.1206G>C, XM_006713660.2:c.1206G>A, XM_006713660.2:c.1206G>C, XM_006713660.1:c.1206G>A, XM_006713660.1:c.1206G>C, XM_011512900.3:c.1206G>A, XM_011512900.3:c.1206G>C, XM_011512900.2:c.1206G>A, XM_011512900.2:c.1206G>C, XM_011512900.1:c.1206G>A, XM_011512900.1:c.1206G>C, XM_011512903.3:c.1206G>A, XM_011512903.3:c.1206G>C, XM_011512903.2:c.1206G>A, XM_011512903.2:c.1206G>C, XM_011512903.1:c.1206G>A, XM_011512903.1:c.1206G>C, NM_002670.3:c.1206G>A, NM_002670.3:c.1206G>C, NM_002670.2:c.1206G>A, NM_002670.2:c.1206G>C, XM_011512901.2:c.1206G>A, XM_011512901.2:c.1206G>C, XM_011512901.1:c.1206G>A, XM_011512901.1:c.1206G>C, XM_017006627.2:c.1206G>A, XM_017006627.2:c.1206G>C, XM_017006627.1:c.1206G>A, XM_017006627.1:c.1206G>C, NM_001172312.2:c.1206G>A, NM_001172312.2:c.1206G>C, NM_001172312.1:c.1206G>A, NM_001172312.1:c.1206G>C, NM_001145319.2:c.1206G>A, NM_001145319.2:c.1206G>C, NM_001145319.1:c.1206G>A, NM_001145319.1:c.1206G>C, XM_047448326.1:c.1206G>A, XM_047448326.1:c.1206G>C, XM_047448328.1:c.1206G>A, XM_047448328.1:c.1206G>C, XM_047448322.1:c.1206G>A, XM_047448322.1:c.1206G>C, XM_047448327.1:c.1206G>A, XM_047448327.1:c.1206G>C, XM_047448323.1:c.1206G>A, XM_047448323.1:c.1206G>C, XM_047448324.1:c.1206G>A, XM_047448324.1:c.1206G>C, XM_047448321.1:c.1206G>A, XM_047448321.1:c.1206G>C, XM_047448325.1:c.1206G>A, XM_047448325.1:c.1206G>C

Select item 145375171718.

rs1453751717 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:142684102 (GRCh38)
3:142402944 (GRCh37)
Canonical SPDI:: NC_000003.12:142684101:G:A
Gene:: PLS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.142684102G>A, NC_000003.11:g.142402944G>A, XM_006713660.4:c.676G>A, XM_006713660.3:c.676G>A, XM_006713660.2:c.676G>A, XM_006713660.1:c.676G>A, XM_011512900.3:c.676G>A, XM_011512900.2:c.676G>A, XM_011512900.1:c.676G>A, XM_011512903.3:c.676G>A, XM_011512903.2:c.676G>A, XM_011512903.1:c.676G>A, NM_002670.3:c.676G>A, NM_002670.2:c.676G>A, XM_011512901.2:c.676G>A, XM_011512901.1:c.676G>A, XM_017006627.2:c.676G>A, XM_017006627.1:c.676G>A, NM_001172312.2:c.676G>A, NM_001172312.1:c.676G>A, NM_001145319.2:c.676G>A, NM_001145319.1:c.676G>A, XM_047448326.1:c.676G>A, XM_047448328.1:c.676G>A, XM_047448322.1:c.676G>A, XM_047448327.1:c.676G>A, XM_047448323.1:c.676G>A, XM_047448324.1:c.676G>A, XM_047448321.1:c.676G>A, XM_047448325.1:c.676G>A, XP_006713723.1:p.Val226Ile, XP_011511202.1:p.Val226Ile, XP_011511205.1:p.Val226Ile, NP_002661.2:p.Val226Ile, XP_011511203.1:p.Val226Ile, XP_016862116.1:p.Val226Ile, NP_001165783.1:p.Val226Ile, NP_001138791.1:p.Val226Ile, XP_047304282.1:p.Val226Ile, XP_047304284.1:p.Val226Ile, XP_047304278.1:p.Val226Ile, XP_047304283.1:p.Val226Ile, XP_047304279.1:p.Val226Ile, XP_047304280.1:p.Val226Ile, XP_047304277.1:p.Val226Ile, XP_047304281.1:p.Val226Ile

Select item 145048810019.

rs1450488100 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:142711546 (GRCh38)
3:142430388 (GRCh37)
Canonical SPDI:: NC_000003.12:142711545:G:A
Gene:: PLS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.142711546G>A, NC_000003.11:g.142430388G>A, XM_006713660.4:c.1675G>A, XM_006713660.3:c.1675G>A, XM_006713660.2:c.1675G>A, XM_006713660.1:c.1675G>A, XM_011512900.3:c.1675G>A, XM_011512900.2:c.1675G>A, XM_011512900.1:c.1675G>A, XM_011512903.3:c.1675G>A, XM_011512903.2:c.1675G>A, XM_011512903.1:c.1675G>A, NM_002670.3:c.1675G>A, NM_002670.2:c.1675G>A, XM_011512901.2:c.1675G>A, XM_011512901.1:c.1675G>A, XM_017006627.2:c.1675G>A, XM_017006627.1:c.1675G>A, NM_001172312.2:c.1675G>A, NM_001172312.1:c.1675G>A, NM_001145319.2:c.1675G>A, NM_001145319.1:c.1675G>A, XM_047448326.1:c.1675G>A, XM_047448328.1:c.1675G>A, XM_047448322.1:c.1675G>A, XM_047448327.1:c.1675G>A, XM_047448323.1:c.1675G>A, XM_047448324.1:c.1675G>A, XM_047448321.1:c.1675G>A, XM_047448325.1:c.1675G>A, XP_006713723.1:p.Ala559Thr, XP_011511202.1:p.Ala559Thr, XP_011511205.1:p.Ala559Thr, NP_002661.2:p.Ala559Thr, XP_011511203.1:p.Ala559Thr, XP_016862116.1:p.Ala559Thr, NP_001165783.1:p.Ala559Thr, NP_001138791.1:p.Ala559Thr, XP_047304282.1:p.Ala559Thr, XP_047304284.1:p.Ala559Thr, XP_047304278.1:p.Ala559Thr, XP_047304283.1:p.Ala559Thr, XP_047304279.1:p.Ala559Thr, XP_047304280.1:p.Ala559Thr, XP_047304277.1:p.Ala559Thr, XP_047304281.1:p.Ala559Thr

Select item 144772699120.

rs1447726991 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:142689758 (GRCh38)
3:142408600 (GRCh37)
Canonical SPDI:: NC_000003.12:142689757:A:G
Gene:: PLS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.142689758A>G, NC_000003.11:g.142408600A>G, XM_006713660.4:c.1122A>G, XM_006713660.3:c.1122A>G, XM_006713660.2:c.1122A>G, XM_006713660.1:c.1122A>G, XM_011512900.3:c.1122A>G, XM_011512900.2:c.1122A>G, XM_011512900.1:c.1122A>G, XM_011512903.3:c.1122A>G, XM_011512903.2:c.1122A>G, XM_011512903.1:c.1122A>G, NM_002670.3:c.1122A>G, NM_002670.2:c.1122A>G, XM_011512901.2:c.1122A>G, XM_011512901.1:c.1122A>G, XM_017006627.2:c.1122A>G, XM_017006627.1:c.1122A>G, NM_001172312.2:c.1122A>G, NM_001172312.1:c.1122A>G, NM_001145319.2:c.1122A>G, NM_001145319.1:c.1122A>G, XM_047448326.1:c.1122A>G, XM_047448328.1:c.1122A>G, XM_047448322.1:c.1122A>G, XM_047448327.1:c.1122A>G, XM_047448323.1:c.1122A>G, XM_047448324.1:c.1122A>G, XM_047448321.1:c.1122A>G, XM_047448325.1:c.1122A>G

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