Canonical Allele Identifier: CA4641151
Gene: MSR1 HGNC NCBI
COSMIC:
COSM150457 (not active)
COSM1163499 (not active)
MyVariant.info:
GRCh38 chr8:g.16155139G>C
GRCh37 chr8:g.16012648G>C
Revel Score:
ENST00000350896 0.448
ENST00000262101 (MANE Select) 0.448
ENST00000445506 0.448
ENST00000355282 0.448
ENST00000522672 0.448
ENST00000381998 0.448
ENST00000536385 0.448
gnomAD v2:
8:16012648 G / C
gnomAD v3:
8:16155139 G / C
gnomAD v4:
chr8-16155139-G-C
Joint Max Group AF 0.36648338 (EAS)
Genomes Max Group AF 0.32509514 (EAS)
Exomes Max Group AF 0.37042983 (EAS)
dbSNP:
2229388
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.16155139G>C , CM000670.2:g.16155139G>C GRCh38
NC_000008.10:g.16012648G>C , CM000670.1:g.16012648G>C GRCh37
NC_000008.9:g.16057019G>C NCBI36
NG_012102.1:g.42653C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262101.10:c.823C>G MANE Select ENSP00000262101.5:p.Pro275Ala
ENST00000262101.9:c.823C>G ENSP00000262101.5:p.Pro275Ala
ENST00000350896.3:c.823C>G ENSP00000262100.3:p.Pro275Ala
ENST00000355282.6:c.823C>G ENSP00000347430.2:p.Pro275Ala
ENST00000381998.8:c.823C>G ENSP00000371428.4:p.Pro275Ala
ENST00000445506.6:c.877C>G ENSP00000405453.2:p.Pro293Ala
ENST00000519060.6:c.*182C>G ENSP00000428865.1:n.*182C>G
ENST00000522672.5:c.193C>G ENSP00000430536.1:p.Pro65Ala
NM_002445.3:c.823C>G NP_002436.1:p.Pro275Ala
NM_138715.2:c.823C>G NP_619729.1:p.Pro275Ala
NM_138716.2:c.823C>G NP_619730.1:p.Pro275Ala
NM_001363744.1:c.877C>G NP_001350673.1:p.Pro293Ala
XM_024447161.1:c.877C>G XP_024302929.1:p.Pro293Ala
NM_138715.3:c.823C>G MANE Select NP_619729.1:p.Pro275Ala
NM_002445.4:c.823C>G NP_002436.1:p.Pro275Ala
NM_138716.3:c.823C>G NP_619730.1:p.Pro275Ala
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