SNP Links for Protein (Select 768040028) - SNP

Links from Protein

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Select item 14706869631.

rs1470686963 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:150641359 (GRCh38)
X:149809832 (GRCh37)
Canonical SPDI:: NC_000023.11:150641358:C:T
Gene:: MTM1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.150641359C>T, NW_004070890.2:g.6165757C>T, NG_008199.1:g.77786C>T, NM_000252.3:c.619C>T, NM_000252.2:c.619C>T, NM_001376908.1:c.619C>T, NM_001376906.1:c.619C>T, NM_001376907.1:c.508C>T, NC_000023.10:g.149809832C>T, XM_017029551.3:c.-126C>T, XM_017029551.2:c.-126C>T, XM_017029551.1:c.-126C>T, XM_011531172.2:c.664C>T, XM_011531172.1:c.664C>T, XM_017029548.2:c.664C>T, XM_017029548.1:c.664C>T, XM_011531171.2:c.664C>T, XM_011531171.1:c.664C>T, XM_047442135.1:c.640C>T, XM_047442136.1:c.640C>T, XM_047442132.1:c.685C>T, XM_047442133.1:c.685C>T, XM_047442134.1:c.640C>T, XM_017029547.1:c.664C>T, XM_047442137.1:c.508C>T, NP_000243.1:p.Arg207Cys, NP_001363837.1:p.Arg207Cys, NP_001363835.1:p.Arg207Cys, NP_001363836.1:p.Arg170Cys, XP_011529474.1:p.Arg222Cys, XP_016885037.1:p.Arg222Cys, XP_011529473.1:p.Arg222Cys, XP_047298091.1:p.Arg214Cys, XP_047298092.1:p.Arg214Cys, XP_047298088.1:p.Arg229Cys, XP_047298089.1:p.Arg229Cys, XP_047298090.1:p.Arg214Cys, XP_016885036.1:p.Arg222Cys, XP_047298093.1:p.Arg170Cys

Select item 14643536672.

rs1464353667 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:150598593 (GRCh38)
X:149767057 (GRCh37)
Canonical SPDI:: NC_000023.11:150598592:C:T
Gene:: MTM1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.150598593C>T, NW_004070890.2:g.6122991C>T, NG_008199.1:g.35011C>T, NM_000252.3:c.138C>T, NM_000252.2:c.138C>T, NM_001376908.1:c.138C>T, NM_001376906.1:c.138C>T, NM_001376907.1:c.138C>T, NC_000023.10:g.149767057C>T, XM_011531172.2:c.138C>T, XM_011531172.1:c.138C>T, XM_017029548.2:c.138C>T, XM_017029548.1:c.138C>T, XM_011531171.2:c.138C>T, XM_011531171.1:c.138C>T, XM_047442135.1:c.159C>T, XM_047442136.1:c.159C>T, XM_047442132.1:c.159C>T, XM_047442133.1:c.159C>T, XM_047442134.1:c.159C>T, XM_017029547.1:c.138C>T, XM_047442137.1:c.138C>T

Select item 14548055163.

rs1454805516 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:150671541 (GRCh38)
X:149840014 (GRCh37)
Canonical SPDI:: NC_000023.11:150671540:A:G
Gene:: MTM1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.150671541A>G, NW_004070890.2:g.6195939A>G, NG_008199.1:g.107968A>G, NM_000252.3:c.1758A>G, NM_000252.2:c.1758A>G, NM_001376908.1:c.1758A>G, NM_001376906.1:c.1755A>G, NM_001376907.1:c.1647A>G, NC_000023.10:g.149840014A>G, XM_017029551.3:c.1014A>G, XM_017029551.2:c.1014A>G, XM_017029551.1:c.1014A>G, XM_011531172.2:c.1803A>G, XM_011531172.1:c.1803A>G, XM_017029548.2:c.1803A>G, XM_017029548.1:c.1803A>G, XM_011531171.2:c.1803A>G, XM_011531171.1:c.1803A>G, XM_047442135.1:c.1779A>G, XM_047442136.1:c.1776A>G, XM_047442132.1:c.1824A>G, XM_047442133.1:c.1824A>G, XM_047442134.1:c.1779A>G, XM_017029547.1:c.1800A>G, XM_047442137.1:c.1644A>G

Select item 14482510984.

rs1448251098 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:150657998 (GRCh38)
X:149826471 (GRCh37)
Canonical SPDI:: NC_000023.11:150657997:T:C
Gene:: MTM1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.150657998T>C, NW_004070890.2:g.6182396T>C, NG_008199.1:g.94425T>C, NM_000252.3:c.1231T>C, NM_000252.2:c.1231T>C, NM_001376908.1:c.1231T>C, NM_001376906.1:c.1231T>C, NM_001376907.1:c.1120T>C, NC_000023.10:g.149826471T>C, XM_017029551.3:c.487T>C, XM_017029551.2:c.487T>C, XM_017029551.1:c.487T>C, XM_011531172.2:c.1276T>C, XM_011531172.1:c.1276T>C, XM_017029548.2:c.1276T>C, XM_017029548.1:c.1276T>C, XM_011531171.2:c.1276T>C, XM_011531171.1:c.1276T>C, XM_047442135.1:c.1252T>C, XM_047442136.1:c.1252T>C, XM_047442132.1:c.1297T>C, XM_047442133.1:c.1297T>C, XM_047442134.1:c.1252T>C, XM_017029547.1:c.1276T>C, XM_047442137.1:c.1120T>C, NP_000243.1:p.Trp411Arg, NP_001363837.1:p.Trp411Arg, NP_001363835.1:p.Trp411Arg, NP_001363836.1:p.Trp374Arg, XP_016885040.1:p.Trp163Arg, XP_011529474.1:p.Trp426Arg, XP_016885037.1:p.Trp426Arg, XP_011529473.1:p.Trp426Arg, XP_047298091.1:p.Trp418Arg, XP_047298092.1:p.Trp418Arg, XP_047298088.1:p.Trp433Arg, XP_047298089.1:p.Trp433Arg, XP_047298090.1:p.Trp418Arg, XP_016885036.1:p.Trp426Arg, XP_047298093.1:p.Trp374Arg

Select item 14475590405.

rs1447559040 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:150614630 (GRCh38)
X:149783103 (GRCh37)
Canonical SPDI:: NC_000023.11:150614629:G:A,NC_000023.11:150614629:G:T
Gene:: MTM1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.150614630G>A, NC_000023.11:g.150614630G>T, NW_004070890.2:g.6139028G>A, NW_004070890.2:g.6139028G>T, NG_008199.1:g.51057G>A, NG_008199.1:g.51057G>T, NM_000252.3:c.273G>A, NM_000252.3:c.273G>T, NM_000252.2:c.273G>A, NM_000252.2:c.273G>T, NM_001376908.1:c.273G>A, NM_001376908.1:c.273G>T, NM_001376906.1:c.273G>A, NM_001376906.1:c.273G>T, NC_000023.10:g.149783103G>A, NC_000023.10:g.149783103G>T, XM_011531172.2:c.318G>A, XM_011531172.2:c.318G>T, XM_011531172.1:c.318G>A, XM_011531172.1:c.318G>T, XM_017029548.2:c.318G>A, XM_017029548.2:c.318G>T, XM_017029548.1:c.318G>A, XM_017029548.1:c.318G>T, XM_011531171.2:c.318G>A, XM_011531171.2:c.318G>T, XM_011531171.1:c.318G>A, XM_011531171.1:c.318G>T, XM_047442135.1:c.294G>A, XM_047442135.1:c.294G>T, XM_047442136.1:c.294G>A, XM_047442136.1:c.294G>T, XM_047442132.1:c.339G>A, XM_047442132.1:c.339G>T, XM_047442133.1:c.339G>A, XM_047442133.1:c.339G>T, XM_047442134.1:c.294G>A, XM_047442134.1:c.294G>T, XM_017029547.1:c.318G>A, XM_017029547.1:c.318G>T

Select item 14432619766.

rs1443261976 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:150619121 (GRCh38)
X:149787594 (GRCh37)
Canonical SPDI:: NC_000023.11:150619120:T:C
Gene:: MTM1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.150619121T>C, NW_004070890.2:g.6143519T>C, NG_008199.1:g.55548T>C, NM_000252.3:c.426T>C, NM_000252.2:c.426T>C, NM_001376908.1:c.426T>C, NM_001376906.1:c.426T>C, NM_001376907.1:c.315T>C, NC_000023.10:g.149787594T>C, XM_011531172.2:c.471T>C, XM_011531172.1:c.471T>C, XM_017029548.2:c.471T>C, XM_017029548.1:c.471T>C, XM_011531171.2:c.471T>C, XM_011531171.1:c.471T>C, XM_047442135.1:c.447T>C, XM_047442136.1:c.447T>C, XM_047442132.1:c.492T>C, XM_047442133.1:c.492T>C, XM_047442134.1:c.447T>C, XM_017029547.1:c.471T>C, XM_047442137.1:c.315T>C

Select item 14335265777.

rs1433526577 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:150638962 (GRCh38)
X:149807435 (GRCh37)
Canonical SPDI:: NC_000023.11:150638961:A:G
Gene:: MTM1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.150638962A>G, NW_004070890.2:g.6163360A>G, NG_008199.1:g.75389A>G, NM_000252.3:c.464A>G, NM_000252.2:c.464A>G, NM_001376908.1:c.464A>G, NM_001376906.1:c.464A>G, NM_001376907.1:c.353A>G, NC_000023.10:g.149807435A>G, XM_017029551.3:c.-281A>G, XM_017029551.2:c.-281A>G, XM_017029551.1:c.-281A>G, XM_011531172.2:c.509A>G, XM_011531172.1:c.509A>G, XM_017029548.2:c.509A>G, XM_017029548.1:c.509A>G, XM_011531171.2:c.509A>G, XM_011531171.1:c.509A>G, XM_047442135.1:c.485A>G, XM_047442136.1:c.485A>G, XM_047442132.1:c.530A>G, XM_047442133.1:c.530A>G, XM_047442134.1:c.485A>G, XM_017029547.1:c.509A>G, XM_047442137.1:c.353A>G, NP_000243.1:p.Asn155Ser, NP_001363837.1:p.Asn155Ser, NP_001363835.1:p.Asn155Ser, NP_001363836.1:p.Asn118Ser, XP_011529474.1:p.Asn170Ser, XP_016885037.1:p.Asn170Ser, XP_011529473.1:p.Asn170Ser, XP_047298091.1:p.Asn162Ser, XP_047298092.1:p.Asn162Ser, XP_047298088.1:p.Asn177Ser, XP_047298089.1:p.Asn177Ser, XP_047298090.1:p.Asn162Ser, XP_016885036.1:p.Asn170Ser, XP_047298093.1:p.Asn118Ser

Select item 14304477868.

rs1430447786 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:150649739 (GRCh38)
X:149818212 (GRCh37)
Canonical SPDI:: NC_000023.11:150649738:T:G
Gene:: MTM1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.150649739T>G, NW_004070890.2:g.6174137T>G, NG_008199.1:g.86166T>G, NM_000252.3:c.891T>G, NM_000252.2:c.891T>G, NM_001376908.1:c.891T>G, NM_001376906.1:c.891T>G, NM_001376907.1:c.780T>G, NC_000023.10:g.149818212T>G, XM_017029551.3:c.147T>G, XM_017029551.2:c.147T>G, XM_017029551.1:c.147T>G, XM_011531172.2:c.936T>G, XM_011531172.1:c.936T>G, XM_017029548.2:c.936T>G, XM_017029548.1:c.936T>G, XM_011531171.2:c.936T>G, XM_011531171.1:c.936T>G, XM_047442135.1:c.912T>G, XM_047442136.1:c.912T>G, XM_047442132.1:c.957T>G, XM_047442133.1:c.957T>G, XM_047442134.1:c.912T>G, XM_017029547.1:c.936T>G, XM_047442137.1:c.780T>G, NP_000243.1:p.Ser297Arg, NP_001363837.1:p.Ser297Arg, NP_001363835.1:p.Ser297Arg, NP_001363836.1:p.Ser260Arg, XP_016885040.1:p.Ser49Arg, XP_011529474.1:p.Ser312Arg, XP_016885037.1:p.Ser312Arg, XP_011529473.1:p.Ser312Arg, XP_047298091.1:p.Ser304Arg, XP_047298092.1:p.Ser304Arg, XP_047298088.1:p.Ser319Arg, XP_047298089.1:p.Ser319Arg, XP_047298090.1:p.Ser304Arg, XP_016885036.1:p.Ser312Arg, XP_047298093.1:p.Ser260Arg

Select item 14150119199.

rs1415011919 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:150660478 (GRCh38)
X:149828951 (GRCh37)
Canonical SPDI:: NC_000023.11:150660477:A:T
Gene:: MTM1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.150660478A>T, NW_004070890.2:g.6184876A>T, NG_008199.1:g.96905A>T, NM_000252.3:c.1461A>T, NM_000252.2:c.1461A>T, NM_001376908.1:c.1461A>T, NM_001376906.1:c.1461A>T, NM_001376907.1:c.1350A>T, NC_000023.10:g.149828951A>T, XM_017029551.3:c.717A>T, XM_017029551.2:c.717A>T, XM_017029551.1:c.717A>T, XM_011531172.2:c.1506A>T, XM_011531172.1:c.1506A>T, XM_017029548.2:c.1506A>T, XM_017029548.1:c.1506A>T, XM_011531171.2:c.1506A>T, XM_011531171.1:c.1506A>T, XM_047442135.1:c.1482A>T, XM_047442136.1:c.1482A>T, XM_047442132.1:c.1527A>T, XM_047442133.1:c.1527A>T, XM_047442134.1:c.1482A>T, XM_017029547.1:c.1506A>T, XM_047442137.1:c.1350A>T, NP_000243.1:p.Glu487Asp, NP_001363837.1:p.Glu487Asp, NP_001363835.1:p.Glu487Asp, NP_001363836.1:p.Glu450Asp, XP_016885040.1:p.Glu239Asp, XP_011529474.1:p.Glu502Asp, XP_016885037.1:p.Glu502Asp, XP_011529473.1:p.Glu502Asp, XP_047298091.1:p.Glu494Asp, XP_047298092.1:p.Glu494Asp, XP_047298088.1:p.Glu509Asp, XP_047298089.1:p.Glu509Asp, XP_047298090.1:p.Glu494Asp, XP_016885036.1:p.Glu502Asp, XP_047298093.1:p.Glu450Asp

Select item 141473364910.

rs1414733649 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:150649897 (GRCh38)
X:149818370 (GRCh37)
Canonical SPDI:: NC_000023.11:150649896:T:C
Gene:: MTM1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.150649897T>C, NW_004070890.2:g.6174295T>C, NG_008199.1:g.86324T>C, NM_000252.3:c.1049T>C, NM_000252.2:c.1049T>C, NM_001376908.1:c.1049T>C, NM_001376906.1:c.1049T>C, NM_001376907.1:c.938T>C, NC_000023.10:g.149818370T>C, XM_017029551.3:c.305T>C, XM_017029551.2:c.305T>C, XM_017029551.1:c.305T>C, XM_011531172.2:c.1094T>C, XM_011531172.1:c.1094T>C, XM_017029548.2:c.1094T>C, XM_017029548.1:c.1094T>C, XM_011531171.2:c.1094T>C, XM_011531171.1:c.1094T>C, XM_047442135.1:c.1070T>C, XM_047442136.1:c.1070T>C, XM_047442132.1:c.1115T>C, XM_047442133.1:c.1115T>C, XM_047442134.1:c.1070T>C, XM_017029547.1:c.1094T>C, XM_047442137.1:c.938T>C, NP_000243.1:p.Ile350Thr, NP_001363837.1:p.Ile350Thr, NP_001363835.1:p.Ile350Thr, NP_001363836.1:p.Ile313Thr, XP_016885040.1:p.Ile102Thr, XP_011529474.1:p.Ile365Thr, XP_016885037.1:p.Ile365Thr, XP_011529473.1:p.Ile365Thr, XP_047298091.1:p.Ile357Thr, XP_047298092.1:p.Ile357Thr, XP_047298088.1:p.Ile372Thr, XP_047298089.1:p.Ile372Thr, XP_047298090.1:p.Ile357Thr, XP_016885036.1:p.Ile365Thr, XP_047298093.1:p.Ile313Thr

Select item 140892394611.

rs1408923946 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:150592669 (GRCh38)
X:149761131 (GRCh37)
Canonical SPDI:: NC_000023.11:150592668:A:C
Gene:: MTM1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.150592669A>C, NW_004070890.2:g.6117067A>C, NG_008199.1:g.29085A>C, NM_000252.3:c.55A>C, NM_000252.2:c.55A>C, NM_001376908.1:c.55A>C, NM_001376906.1:c.55A>C, NM_001376907.1:c.55A>C, NC_000023.10:g.149761131A>C, XM_011531172.2:c.55A>C, XM_011531172.1:c.55A>C, XM_017029548.2:c.55A>C, XM_017029548.1:c.55A>C, XM_011531171.2:c.55A>C, XM_011531171.1:c.55A>C, XM_047442135.1:c.76A>C, XM_047442136.1:c.76A>C, XM_047442132.1:c.76A>C, XM_047442133.1:c.76A>C, XM_047442134.1:c.76A>C, XM_017029547.1:c.55A>C, XM_047442137.1:c.55A>C, NP_000243.1:p.Ile19Leu, NP_001363837.1:p.Ile19Leu, NP_001363835.1:p.Ile19Leu, NP_001363836.1:p.Ile19Leu, XP_011529474.1:p.Ile19Leu, XP_016885037.1:p.Ile19Leu, XP_011529473.1:p.Ile19Leu, XP_047298091.1:p.Ile26Leu, XP_047298092.1:p.Ile26Leu, XP_047298088.1:p.Ile26Leu, XP_047298089.1:p.Ile26Leu, XP_047298090.1:p.Ile26Leu, XP_016885036.1:p.Ile19Leu, XP_047298093.1:p.Ile19Leu

Select item 140186423412.

rs1401864234 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:150663440 (GRCh38)
X:149831913 (GRCh37)
Canonical SPDI:: NC_000023.11:150663439:C:T
Gene:: MTM1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.150663440C>T, NW_004070890.2:g.6187838C>T, NG_008199.1:g.99867C>T, NM_000252.3:c.1475C>T, NM_000252.2:c.1475C>T, NM_001376908.1:c.1475C>T, NM_001376906.1:c.1475C>T, NM_001376907.1:c.1364C>T, NC_000023.10:g.149831913C>T, XM_017029551.3:c.731C>T, XM_017029551.2:c.731C>T, XM_017029551.1:c.731C>T, XM_011531172.2:c.1520C>T, XM_011531172.1:c.1520C>T, XM_017029548.2:c.1520C>T, XM_017029548.1:c.1520C>T, XM_011531171.2:c.1520C>T, XM_011531171.1:c.1520C>T, XM_047442135.1:c.1496C>T, XM_047442136.1:c.1496C>T, XM_047442132.1:c.1541C>T, XM_047442133.1:c.1541C>T, XM_047442134.1:c.1496C>T, XM_017029547.1:c.1520C>T, XM_047442137.1:c.1364C>T, NP_000243.1:p.Thr492Ile, NP_001363837.1:p.Thr492Ile, NP_001363835.1:p.Thr492Ile, NP_001363836.1:p.Thr455Ile, XP_016885040.1:p.Thr244Ile, XP_011529474.1:p.Thr507Ile, XP_016885037.1:p.Thr507Ile, XP_011529473.1:p.Thr507Ile, XP_047298091.1:p.Thr499Ile, XP_047298092.1:p.Thr499Ile, XP_047298088.1:p.Thr514Ile, XP_047298089.1:p.Thr514Ile, XP_047298090.1:p.Thr499Ile, XP_016885036.1:p.Thr507Ile, XP_047298093.1:p.Thr455Ile

Select item 139986237913.

rs1399862379 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:150663582 (GRCh38)
X:149832055 (GRCh37)
Canonical SPDI:: NC_000023.11:150663581:T:C
Gene:: MTM1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000005/1 (GnomAD_exomes)
C=0.00001/1 (GnomAD)
C=0.000038/10 (TOPMED)
HGVS:: NC_000023.11:g.150663582T>C, NW_004070890.2:g.6187980T>C, NG_008199.1:g.100009T>C, NM_000252.3:c.1617T>C, NM_000252.2:c.1617T>C, NM_001376908.1:c.1617T>C, NM_001376906.1:c.1617T>C, NM_001376907.1:c.1506T>C, NC_000023.10:g.149832055T>C, XM_017029551.3:c.873T>C, XM_017029551.2:c.873T>C, XM_017029551.1:c.873T>C, XM_011531172.2:c.1662T>C, XM_011531172.1:c.1662T>C, XM_017029548.2:c.1662T>C, XM_017029548.1:c.1662T>C, XM_011531171.2:c.1662T>C, XM_011531171.1:c.1662T>C, XM_047442135.1:c.1638T>C, XM_047442136.1:c.1638T>C, XM_047442132.1:c.1683T>C, XM_047442133.1:c.1683T>C, XM_047442134.1:c.1638T>C, XM_017029547.1:c.1662T>C, XM_047442137.1:c.1506T>C

Select item 139511961514.

rs1395119615 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:150657982 (GRCh38)
X:149826455 (GRCh37)
Canonical SPDI:: NC_000023.11:150657981:A:G
Gene:: MTM1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.150657982A>G, NW_004070890.2:g.6182380A>G, NG_008199.1:g.94409A>G, NM_000252.3:c.1215A>G, NM_000252.2:c.1215A>G, NM_001376908.1:c.1215A>G, NM_001376906.1:c.1215A>G, NM_001376907.1:c.1104A>G, NC_000023.10:g.149826455A>G, XM_017029551.3:c.471A>G, XM_017029551.2:c.471A>G, XM_017029551.1:c.471A>G, XM_011531172.2:c.1260A>G, XM_011531172.1:c.1260A>G, XM_017029548.2:c.1260A>G, XM_017029548.1:c.1260A>G, XM_011531171.2:c.1260A>G, XM_011531171.1:c.1260A>G, XM_047442135.1:c.1236A>G, XM_047442136.1:c.1236A>G, XM_047442132.1:c.1281A>G, XM_047442133.1:c.1281A>G, XM_047442134.1:c.1236A>G, XM_017029547.1:c.1260A>G, XM_047442137.1:c.1104A>G, NP_000243.1:p.Ile405Met, NP_001363837.1:p.Ile405Met, NP_001363835.1:p.Ile405Met, NP_001363836.1:p.Ile368Met, XP_016885040.1:p.Ile157Met, XP_011529474.1:p.Ile420Met, XP_016885037.1:p.Ile420Met, XP_011529473.1:p.Ile420Met, XP_047298091.1:p.Ile412Met, XP_047298092.1:p.Ile412Met, XP_047298088.1:p.Ile427Met, XP_047298089.1:p.Ile427Met, XP_047298090.1:p.Ile412Met, XP_016885036.1:p.Ile420Met, XP_047298093.1:p.Ile368Met

Select item 138150612615.

rs1381506126 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:150596505 (GRCh38)
X:149764969 (GRCh37)
Canonical SPDI:: NC_000023.11:150596504:G:A
Gene:: MTM1 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/2 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
A=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.150596505G>A, NW_004070890.2:g.6120903G>A, NG_008199.1:g.32923G>A, NM_000252.3:c.71G>A, NM_000252.2:c.71G>A, NM_001376908.1:c.71G>A, NM_001376906.1:c.71G>A, NM_001376907.1:c.71G>A, NC_000023.10:g.149764969G>A, XM_011531172.2:c.71G>A, XM_011531172.1:c.71G>A, XM_017029548.2:c.71G>A, XM_017029548.1:c.71G>A, XM_011531171.2:c.71G>A, XM_011531171.1:c.71G>A, XM_047442135.1:c.92G>A, XM_047442136.1:c.92G>A, XM_047442132.1:c.92G>A, XM_047442133.1:c.92G>A, XM_047442134.1:c.92G>A, XM_017029547.1:c.71G>A, XM_047442137.1:c.71G>A, NP_000243.1:p.Arg24Gln, NP_001363837.1:p.Arg24Gln, NP_001363835.1:p.Arg24Gln, NP_001363836.1:p.Arg24Gln, XP_011529474.1:p.Arg24Gln, XP_016885037.1:p.Arg24Gln, XP_011529473.1:p.Arg24Gln, XP_047298091.1:p.Arg31Gln, XP_047298092.1:p.Arg31Gln, XP_047298088.1:p.Arg31Gln, XP_047298089.1:p.Arg31Gln, XP_047298090.1:p.Arg31Gln, XP_016885036.1:p.Arg24Gln, XP_047298093.1:p.Arg24Gln

Select item 137547586816.

rs1375475868 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: X:150659733 (GRCh38)
X:149828206 (GRCh37)
Canonical SPDI:: NC_000023.11:150659732:T:A,NC_000023.11:150659732:T:G
Gene:: MTM1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
G=0.000005/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.150659733T>A, NC_000023.11:g.150659733T>G, NW_004070890.2:g.6184131T>A, NW_004070890.2:g.6184131T>G, NG_008199.1:g.96160T>A, NG_008199.1:g.96160T>G, NM_000252.3:c.1330T>A, NM_000252.3:c.1330T>G, NM_000252.2:c.1330T>A, NM_000252.2:c.1330T>G, NM_001376908.1:c.1330T>A, NM_001376908.1:c.1330T>G, NM_001376906.1:c.1330T>A, NM_001376906.1:c.1330T>G, NM_001376907.1:c.1219T>A, NM_001376907.1:c.1219T>G, NC_000023.10:g.149828206T>A, NC_000023.10:g.149828206T>G, XM_017029551.3:c.586T>A, XM_017029551.3:c.586T>G, XM_017029551.2:c.586T>A, XM_017029551.2:c.586T>G, XM_017029551.1:c.586T>A, XM_017029551.1:c.586T>G, XM_011531172.2:c.1375T>A, XM_011531172.2:c.1375T>G, XM_011531172.1:c.1375T>A, XM_011531172.1:c.1375T>G, XM_017029548.2:c.1375T>A, XM_017029548.2:c.1375T>G, XM_017029548.1:c.1375T>A, XM_017029548.1:c.1375T>G, XM_011531171.2:c.1375T>A, XM_011531171.2:c.1375T>G, XM_011531171.1:c.1375T>A, XM_011531171.1:c.1375T>G, XM_047442135.1:c.1351T>A, XM_047442135.1:c.1351T>G, XM_047442136.1:c.1351T>A, XM_047442136.1:c.1351T>G, XM_047442132.1:c.1396T>A, XM_047442132.1:c.1396T>G, XM_047442133.1:c.1396T>A, XM_047442133.1:c.1396T>G, XM_047442134.1:c.1351T>A, XM_047442134.1:c.1351T>G, XM_017029547.1:c.1375T>A, XM_017029547.1:c.1375T>G, XM_047442137.1:c.1219T>A, XM_047442137.1:c.1219T>G, NP_000243.1:p.Cys444Ser, NP_000243.1:p.Cys444Gly, NP_001363837.1:p.Cys444Ser, NP_001363837.1:p.Cys444Gly, NP_001363835.1:p.Cys444Ser, NP_001363835.1:p.Cys444Gly, NP_001363836.1:p.Cys407Ser, NP_001363836.1:p.Cys407Gly, XP_016885040.1:p.Cys196Ser, XP_016885040.1:p.Cys196Gly, XP_011529474.1:p.Cys459Ser, XP_011529474.1:p.Cys459Gly, XP_016885037.1:p.Cys459Ser, XP_016885037.1:p.Cys459Gly, XP_011529473.1:p.Cys459Ser, XP_011529473.1:p.Cys459Gly, XP_047298091.1:p.Cys451Ser, XP_047298091.1:p.Cys451Gly, XP_047298092.1:p.Cys451Ser, XP_047298092.1:p.Cys451Gly, XP_047298088.1:p.Cys466Ser, XP_047298088.1:p.Cys466Gly, XP_047298089.1:p.Cys466Ser, XP_047298089.1:p.Cys466Gly, XP_047298090.1:p.Cys451Ser, XP_047298090.1:p.Cys451Gly, XP_016885036.1:p.Cys459Ser, XP_016885036.1:p.Cys459Gly, XP_047298093.1:p.Cys407Ser, XP_047298093.1:p.Cys407Gly

Select item 135827886417.

rs1358278864 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:150657969 (GRCh38)
X:149826442 (GRCh37)
Canonical SPDI:: NC_000023.11:150657968:A:C
Gene:: MTM1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.150657969A>C, NW_004070890.2:g.6182367A>C, NG_008199.1:g.94396A>C, NM_000252.3:c.1202A>C, NM_000252.2:c.1202A>C, NM_001376908.1:c.1202A>C, NM_001376906.1:c.1202A>C, NM_001376907.1:c.1091A>C, NC_000023.10:g.149826442A>C, XM_017029551.3:c.458A>C, XM_017029551.2:c.458A>C, XM_017029551.1:c.458A>C, XM_011531172.2:c.1247A>C, XM_011531172.1:c.1247A>C, XM_017029548.2:c.1247A>C, XM_017029548.1:c.1247A>C, XM_011531171.2:c.1247A>C, XM_011531171.1:c.1247A>C, XM_047442135.1:c.1223A>C, XM_047442136.1:c.1223A>C, XM_047442132.1:c.1268A>C, XM_047442133.1:c.1268A>C, XM_047442134.1:c.1223A>C, XM_017029547.1:c.1247A>C, XM_047442137.1:c.1091A>C, NP_000243.1:p.Glu401Ala, NP_001363837.1:p.Glu401Ala, NP_001363835.1:p.Glu401Ala, NP_001363836.1:p.Glu364Ala, XP_016885040.1:p.Glu153Ala, XP_011529474.1:p.Glu416Ala, XP_016885037.1:p.Glu416Ala, XP_011529473.1:p.Glu416Ala, XP_047298091.1:p.Glu408Ala, XP_047298092.1:p.Glu408Ala, XP_047298088.1:p.Glu423Ala, XP_047298089.1:p.Glu423Ala, XP_047298090.1:p.Glu408Ala, XP_016885036.1:p.Glu416Ala, XP_047298093.1:p.Glu364Ala

Select item 135303625018.

rs1353036250 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:150601479 (GRCh38)
X:149769943 (GRCh37)
Canonical SPDI:: NC_000023.11:150601478:G:A
Gene:: MTM1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000023/6 (TOPMED)
A=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.150601479G>A, NW_004070890.2:g.6125877G>A, NG_008199.1:g.37897G>A, NC_000023.10:g.149769943G>A, XM_011531172.2:c.248G>A, XM_011531172.1:c.248G>A, XM_017029548.2:c.248G>A, XM_017029548.1:c.248G>A, XM_011531171.2:c.248G>A, XM_011531171.1:c.248G>A, XM_047442132.1:c.269G>A, XM_047442133.1:c.269G>A, XM_017029547.1:c.248G>A, XP_011529474.1:p.Arg83His, XP_016885037.1:p.Arg83His, XP_011529473.1:p.Arg83His, XP_047298088.1:p.Arg90His, XP_047298089.1:p.Arg90His, XP_016885036.1:p.Arg83His

Select item 134733533119.

rs1347335331 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: X:150671507 (GRCh38)
X:149839980 (GRCh37)
Canonical SPDI:: NC_000023.11:150671506:A:C,NC_000023.11:150671506:A:G
Gene:: MTM1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/2 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.150671507A>C, NC_000023.11:g.150671507A>G, NW_004070890.2:g.6195905A>C, NW_004070890.2:g.6195905A>G, NG_008199.1:g.107934A>C, NG_008199.1:g.107934A>G, NM_000252.3:c.1724A>C, NM_000252.3:c.1724A>G, NM_000252.2:c.1724A>C, NM_000252.2:c.1724A>G, NM_001376908.1:c.1724A>C, NM_001376908.1:c.1724A>G, NM_001376906.1:c.1721A>C, NM_001376906.1:c.1721A>G, NM_001376907.1:c.1613A>C, NM_001376907.1:c.1613A>G, NC_000023.10:g.149839980A>C, NC_000023.10:g.149839980A>G, XM_017029551.3:c.980A>C, XM_017029551.3:c.980A>G, XM_017029551.2:c.980A>C, XM_017029551.2:c.980A>G, XM_017029551.1:c.980A>C, XM_017029551.1:c.980A>G, XM_011531172.2:c.1769A>C, XM_011531172.2:c.1769A>G, XM_011531172.1:c.1769A>C, XM_011531172.1:c.1769A>G, XM_017029548.2:c.1769A>C, XM_017029548.2:c.1769A>G, XM_017029548.1:c.1769A>C, XM_017029548.1:c.1769A>G, XM_011531171.2:c.1769A>C, XM_011531171.2:c.1769A>G, XM_011531171.1:c.1769A>C, XM_011531171.1:c.1769A>G, XM_047442135.1:c.1745A>C, XM_047442135.1:c.1745A>G, XM_047442136.1:c.1742A>C, XM_047442136.1:c.1742A>G, XM_047442132.1:c.1790A>C, XM_047442132.1:c.1790A>G, XM_047442133.1:c.1790A>C, XM_047442133.1:c.1790A>G, XM_047442134.1:c.1745A>C, XM_047442134.1:c.1745A>G, XM_017029547.1:c.1766A>C, XM_017029547.1:c.1766A>G, XM_047442137.1:c.1610A>C, XM_047442137.1:c.1610A>G, NP_000243.1:p.Gln575Pro, NP_000243.1:p.Gln575Arg, NP_001363837.1:p.Gln575Pro, NP_001363837.1:p.Gln575Arg, NP_001363835.1:p.Gln574Pro, NP_001363835.1:p.Gln574Arg, NP_001363836.1:p.Gln538Pro, NP_001363836.1:p.Gln538Arg, XP_016885040.1:p.Gln327Pro, XP_016885040.1:p.Gln327Arg, XP_011529474.1:p.Gln590Pro, XP_011529474.1:p.Gln590Arg, XP_016885037.1:p.Gln590Pro, XP_016885037.1:p.Gln590Arg, XP_011529473.1:p.Gln590Pro, XP_011529473.1:p.Gln590Arg, XP_047298091.1:p.Gln582Pro, XP_047298091.1:p.Gln582Arg, XP_047298092.1:p.Gln581Pro, XP_047298092.1:p.Gln581Arg, XP_047298088.1:p.Gln597Pro, XP_047298088.1:p.Gln597Arg, XP_047298089.1:p.Gln597Pro, XP_047298089.1:p.Gln597Arg, XP_047298090.1:p.Gln582Pro, XP_047298090.1:p.Gln582Arg, XP_016885036.1:p.Gln589Pro, XP_016885036.1:p.Gln589Arg, XP_047298093.1:p.Gln537Pro, XP_047298093.1:p.Gln537Arg

Select item 134229939920.

rs1342299399 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:150663467 (GRCh38)
X:149831940 (GRCh37)
Canonical SPDI:: NC_000023.11:150663466:T:A
Gene:: MTM1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.150663467T>A, NW_004070890.2:g.6187865T>A, NG_008199.1:g.99894T>A, NM_000252.3:c.1502T>A, NM_000252.2:c.1502T>A, NM_001376908.1:c.1502T>A, NM_001376906.1:c.1502T>A, NM_001376907.1:c.1391T>A, NC_000023.10:g.149831940T>A, XM_017029551.3:c.758T>A, XM_017029551.2:c.758T>A, XM_017029551.1:c.758T>A, XM_011531172.2:c.1547T>A, XM_011531172.1:c.1547T>A, XM_017029548.2:c.1547T>A, XM_017029548.1:c.1547T>A, XM_011531171.2:c.1547T>A, XM_011531171.1:c.1547T>A, XM_047442135.1:c.1523T>A, XM_047442136.1:c.1523T>A, XM_047442132.1:c.1568T>A, XM_047442133.1:c.1568T>A, XM_047442134.1:c.1523T>A, XM_017029547.1:c.1547T>A, XM_047442137.1:c.1391T>A, NP_000243.1:p.Leu501Gln, NP_001363837.1:p.Leu501Gln, NP_001363835.1:p.Leu501Gln, NP_001363836.1:p.Leu464Gln, XP_016885040.1:p.Leu253Gln, XP_011529474.1:p.Leu516Gln, XP_016885037.1:p.Leu516Gln, XP_011529473.1:p.Leu516Gln, XP_047298091.1:p.Leu508Gln, XP_047298092.1:p.Leu508Gln, XP_047298088.1:p.Leu523Gln, XP_047298089.1:p.Leu523Gln, XP_047298090.1:p.Leu508Gln, XP_016885036.1:p.Leu516Gln, XP_047298093.1:p.Leu464Gln

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