SNP Links for Protein (Select 22547140) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 297

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Select item 14907378001.

rs1490737800 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:10252259 (GRCh38)
19:10362935 (GRCh37)
Canonical SPDI:: NC_000019.10:10252258:G:A
Gene:: MRPL4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.10252259G>A, NC_000019.9:g.10362935G>A, XM_011528045.4:c.6G>A, NM_015956.3:c.6G>A, NM_015956.2:c.6G>A, NM_146388.2:c.6G>A, NM_146388.1:c.6G>A, NM_146387.2:c.6G>A, NM_146387.1:c.6G>A, NM_001411149.1:c.6G>A

Select item 14864258312.

rs1486425831 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:10252307 (GRCh38)
19:10362983 (GRCh37)
Canonical SPDI:: NC_000019.10:10252306:C:G
Gene:: MRPL4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.10252307C>G, NC_000019.9:g.10362983C>G, XM_011528045.4:c.54C>G, NM_015956.3:c.54C>G, NM_015956.2:c.54C>G, NM_146388.2:c.54C>G, NM_146388.1:c.54C>G, NM_146387.2:c.54C>G, NM_146387.1:c.54C>G, NM_001411149.1:c.54C>G, XP_011526347.1:p.Ser18Arg, NP_057040.2:p.Ser18Arg, NP_666500.1:p.Ser18Arg, NP_666499.1:p.Ser18Arg

Select item 14854281323.

rs1485428132 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:10258255 (GRCh38)
19:10368931 (GRCh37)
Canonical SPDI:: NC_000019.10:10258254:G:C
Gene:: MRPL4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.10258255G>C, NC_000019.9:g.10368931G>C, XM_011528045.4:c.479G>C, NM_015956.3:c.479G>C, NM_015956.2:c.479G>C, NM_146388.2:c.479G>C, NM_146388.1:c.479G>C, NM_146387.2:c.479G>C, NM_146387.1:c.479G>C, NM_001411149.1:c.479G>C, XP_011526347.1:p.Ser160Thr, NP_057040.2:p.Ser160Thr, NP_666500.1:p.Ser160Thr, NP_666499.1:p.Ser160Thr

Select item 14750891084.

rs1475089108 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:10258477 (GRCh38)
19:10369153 (GRCh37)
Canonical SPDI:: NC_000019.10:10258476:T:G
Gene:: MRPL4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.10258477T>G, NC_000019.9:g.10369153T>G, XM_011528045.4:c.617T>G, NM_015956.3:c.617T>G, NM_015956.2:c.617T>G, NM_146388.2:c.617T>G, NM_146388.1:c.617T>G, NM_146387.2:c.617T>G, NM_146387.1:c.617T>G, NM_001411149.1:c.617T>G, XP_011526347.1:p.Leu206Arg, NP_057040.2:p.Leu206Arg, NP_666500.1:p.Leu206Arg, NP_666499.1:p.Leu206Arg

Select item 14744400235.

rs1474440023 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:10254605 (GRCh38)
19:10365281 (GRCh37)
Canonical SPDI:: NC_000019.10:10254604:C:T
Gene:: MRPL4 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.10254605C>T, NC_000019.9:g.10365281C>T, XM_011528045.4:c.292C>T, NM_015956.3:c.292C>T, NM_015956.2:c.292C>T, NM_146388.2:c.292C>T, NM_146388.1:c.292C>T, NM_146387.2:c.292C>T, NM_146387.1:c.292C>T, NM_001411149.1:c.292C>T, XP_011526347.1:p.Gln98Ter, NP_057040.2:p.Gln98Ter, NP_666500.1:p.Gln98Ter, NP_666499.1:p.Gln98Ter

Select item 14661493446.

rs1466149344 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:10252612 (GRCh38)
19:10363288 (GRCh37)
Canonical SPDI:: NC_000019.10:10252611:G:A
Gene:: MRPL4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.10252612G>A, NC_000019.9:g.10363288G>A, XM_011528045.4:c.186G>A, NM_015956.3:c.186G>A, NM_015956.2:c.186G>A, NM_146388.2:c.186G>A, NM_146388.1:c.186G>A, NM_146387.2:c.186G>A, NM_146387.1:c.186G>A, NM_001411149.1:c.186G>A

Select item 14628526537.

rs1462852653 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:10252460 (GRCh38)
19:10363136 (GRCh37)
Canonical SPDI:: NC_000019.10:10252459:G:T
Gene:: MRPL4 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
HGVS:: NC_000019.10:g.10252460G>T, NC_000019.9:g.10363136G>T, XM_011528045.4:c.121G>T, NM_015956.3:c.121G>T, NM_015956.2:c.121G>T, NM_146388.2:c.121G>T, NM_146388.1:c.121G>T, NM_146387.2:c.121G>T, NM_146387.1:c.121G>T, NM_001411149.1:c.121G>T, XP_011526347.1:p.Glu41Ter, NP_057040.2:p.Glu41Ter, NP_666500.1:p.Glu41Ter, NP_666499.1:p.Glu41Ter

Select item 14627749238.

rs1462774923 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 19:10258693 (GRCh38)
19:10369369 (GRCh37)
Canonical SPDI:: NC_000019.10:10258691:AAA:A
Gene:: MRPL4 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
-=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000019.10:g.10258693_10258694del, NC_000019.9:g.10369369_10369370del, NM_146388.2:c.747_748del, NM_146388.1:c.747_748del, NP_666500.1:p.Arg250fs

Select item 14612282479.

rs1461228247 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:10258421 (GRCh38)
19:10369097 (GRCh37)
Canonical SPDI:: NC_000019.10:10258420:G:A
Gene:: MRPL4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.10258421G>A, NC_000019.9:g.10369097G>A, XM_011528045.4:c.561G>A, NM_015956.3:c.561G>A, NM_015956.2:c.561G>A, NM_146388.2:c.561G>A, NM_146388.1:c.561G>A, NM_146387.2:c.561G>A, NM_146387.1:c.561G>A, NM_001411149.1:c.561G>A

Select item 145931161110.

rs1459311611 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:10256723 (GRCh38)
19:10367399 (GRCh37)
Canonical SPDI:: NC_000019.10:10256722:A:C
Gene:: MRPL4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000019.10:g.10256723A>C, NC_000019.9:g.10367399A>C, XM_011528045.4:c.343A>C, NM_015956.3:c.343A>C, NM_015956.2:c.343A>C, NM_146388.2:c.343A>C, NM_146388.1:c.343A>C, NM_146387.2:c.343A>C, NM_146387.1:c.343A>C, NM_001411149.1:c.343A>C, XP_011526347.1:p.Lys115Gln, NP_057040.2:p.Lys115Gln, NP_666500.1:p.Lys115Gln, NP_666499.1:p.Lys115Gln

Select item 145653254711.

rs1456532547 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:10252281 (GRCh38)
19:10362957 (GRCh37)
Canonical SPDI:: NC_000019.10:10252280:C:G,NC_000019.10:10252280:C:T
Gene:: MRPL4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.10252281C>G, NC_000019.10:g.10252281C>T, NC_000019.9:g.10362957C>G, NC_000019.9:g.10362957C>T, XM_011528045.4:c.28C>G, XM_011528045.4:c.28C>T, NM_015956.3:c.28C>G, NM_015956.3:c.28C>T, NM_015956.2:c.28C>G, NM_015956.2:c.28C>T, NM_146388.2:c.28C>G, NM_146388.2:c.28C>T, NM_146388.1:c.28C>G, NM_146388.1:c.28C>T, NM_146387.2:c.28C>G, NM_146387.2:c.28C>T, NM_146387.1:c.28C>G, NM_146387.1:c.28C>T, NM_001411149.1:c.28C>G, NM_001411149.1:c.28C>T, XP_011526347.1:p.Arg10Gly, XP_011526347.1:p.Arg10Trp, NP_057040.2:p.Arg10Gly, NP_057040.2:p.Arg10Trp, NP_666500.1:p.Arg10Gly, NP_666500.1:p.Arg10Trp, NP_666499.1:p.Arg10Gly, NP_666499.1:p.Arg10Trp

Select item 145577306512.

rs1455773065 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:10258439 (GRCh38)
19:10369115 (GRCh37)
Canonical SPDI:: NC_000019.10:10258438:A:G
Gene:: MRPL4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.10258439A>G, NC_000019.9:g.10369115A>G, XM_011528045.4:c.579A>G, NM_015956.3:c.579A>G, NM_015956.2:c.579A>G, NM_146388.2:c.579A>G, NM_146388.1:c.579A>G, NM_146387.2:c.579A>G, NM_146387.1:c.579A>G, NM_001411149.1:c.579A>G

Select item 145243003013.

rs1452430030 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:10256775 (GRCh38)
19:10367451 (GRCh37)
Canonical SPDI:: NC_000019.10:10256774:G:A
Gene:: MRPL4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.10256775G>A, NC_000019.9:g.10367451G>A, XM_011528045.4:c.395G>A, NM_015956.3:c.395G>A, NM_015956.2:c.395G>A, NM_146388.2:c.395G>A, NM_146388.1:c.395G>A, NM_146387.2:c.395G>A, NM_146387.1:c.395G>A, NM_001411149.1:c.395G>A, XP_011526347.1:p.Gly132Asp, NP_057040.2:p.Gly132Asp, NP_666500.1:p.Gly132Asp, NP_666499.1:p.Gly132Asp

Select item 143760634914.

rs1437606349 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 19:10258246 (GRCh38)
19:10368923 (GRCh37)
Canonical SPDI:: NC_000019.10:10258246:CCCC:CCCCC
Gene:: MRPL4 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.10258250dup, NC_000019.9:g.10368926dup, XM_011528045.4:c.474dup, NM_015956.3:c.474dup, NM_015956.2:c.474dup, NM_146388.2:c.474dup, NM_146388.1:c.474dup, NM_146387.2:c.474dup, NM_146387.1:c.474dup, NM_001411149.1:c.474dup, XP_011526347.1:p.Thr159fs, NP_057040.2:p.Thr159fs, NP_666500.1:p.Thr159fs, NP_666499.1:p.Thr159fs

Select item 143346503315.

rs1433465033 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:10252648 (GRCh38)
19:10363324 (GRCh37)
Canonical SPDI:: NC_000019.10:10252647:G:A
Gene:: MRPL4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.0001/1 (ALFA)
HGVS:: NC_000019.10:g.10252648G>A, NC_000019.9:g.10363324G>A, XM_011528045.4:c.222G>A, NM_015956.3:c.222G>A, NM_015956.2:c.222G>A, NM_146388.2:c.222G>A, NM_146388.1:c.222G>A, NM_146387.2:c.222G>A, NM_146387.1:c.222G>A, NM_001411149.1:c.222G>A

Select item 142716212416.

rs1427162124 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:10258222 (GRCh38)
19:10368898 (GRCh37)
Canonical SPDI:: NC_000019.10:10258221:G:C
Gene:: MRPL4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.10258222G>C, NC_000019.9:g.10368898G>C, XM_011528045.4:c.446G>C, NM_015956.3:c.446G>C, NM_015956.2:c.446G>C, NM_146388.2:c.446G>C, NM_146388.1:c.446G>C, NM_146387.2:c.446G>C, NM_146387.1:c.446G>C, NM_001411149.1:c.446G>C, XP_011526347.1:p.Gly149Ala, NP_057040.2:p.Gly149Ala, NP_666500.1:p.Gly149Ala, NP_666499.1:p.Gly149Ala

Select item 142484162217.

rs1424841622 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:10252568 (GRCh38)
19:10363244 (GRCh37)
Canonical SPDI:: NC_000019.10:10252567:C:T
Gene:: MRPL4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.10252568C>T, NC_000019.9:g.10363244C>T, XM_011528045.4:c.142C>T, NM_015956.3:c.142C>T, NM_015956.2:c.142C>T, NM_146388.2:c.142C>T, NM_146388.1:c.142C>T, NM_146387.2:c.142C>T, NM_146387.1:c.142C>T, NM_001411149.1:c.142C>T

Select item 142280472218.

rs1422804722 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:10252665 (GRCh38)
19:10363341 (GRCh37)
Canonical SPDI:: NC_000019.10:10252664:C:T
Gene:: MRPL4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.10252665C>T, NC_000019.9:g.10363341C>T, XM_011528045.4:c.239C>T, NM_015956.3:c.239C>T, NM_015956.2:c.239C>T, NM_146388.2:c.239C>T, NM_146388.1:c.239C>T, NM_146387.2:c.239C>T, NM_146387.1:c.239C>T, NM_001411149.1:c.239C>T, XP_011526347.1:p.Ala80Val, NP_057040.2:p.Ala80Val, NP_666500.1:p.Ala80Val, NP_666499.1:p.Ala80Val

Select item 142103865919.

rs1421038659 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:10252420 (GRCh38)
19:10363096 (GRCh37)
Canonical SPDI:: NC_000019.10:10252419:G:A,NC_000019.10:10252419:G:C
Gene:: MRPL4 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000021/3 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000019.10:g.10252420G>A, NC_000019.10:g.10252420G>C, NC_000019.9:g.10363096G>A, NC_000019.9:g.10363096G>C, XM_011528045.4:c.81G>A, XM_011528045.4:c.81G>C, NM_015956.3:c.81G>A, NM_015956.3:c.81G>C, NM_015956.2:c.81G>A, NM_015956.2:c.81G>C, NM_146388.2:c.81G>A, NM_146388.2:c.81G>C, NM_146388.1:c.81G>A, NM_146388.1:c.81G>C, NM_146387.2:c.81G>A, NM_146387.2:c.81G>C, NM_146387.1:c.81G>A, NM_146387.1:c.81G>C, NM_001411149.1:c.81G>A, NM_001411149.1:c.81G>C, XP_011526347.1:p.Glu27Asp, NP_057040.2:p.Glu27Asp, NP_666500.1:p.Glu27Asp, NP_666499.1:p.Glu27Asp

Select item 141681320920.

rs1416813209 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 19:10252400 (GRCh38)
19:10363076 (GRCh37)
Canonical SPDI:: NC_000019.10:10252399:C:A,NC_000019.10:10252399:C:G
Gene:: MRPL4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000054/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000223/1 (Estonian)
HGVS:: NC_000019.10:g.10252400C>A, NC_000019.10:g.10252400C>G, NC_000019.9:g.10363076C>A, NC_000019.9:g.10363076C>G, XM_011528045.4:c.61C>A, XM_011528045.4:c.61C>G, NM_015956.3:c.61C>A, NM_015956.3:c.61C>G, NM_015956.2:c.61C>A, NM_015956.2:c.61C>G, NM_146388.2:c.61C>A, NM_146388.2:c.61C>G, NM_146388.1:c.61C>A, NM_146388.1:c.61C>G, NM_146387.2:c.61C>A, NM_146387.2:c.61C>G, NM_146387.1:c.61C>A, NM_146387.1:c.61C>G, NM_001411149.1:c.61C>A, NM_001411149.1:c.61C>G, XP_011526347.1:p.Leu21Met, XP_011526347.1:p.Leu21Val, NP_057040.2:p.Leu21Met, NP_057040.2:p.Leu21Val, NP_666500.1:p.Leu21Met, NP_666500.1:p.Leu21Val, NP_666499.1:p.Leu21Met, NP_666499.1:p.Leu21Val

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