Canonical Allele Identifier: CA370391514
Gene: MSR1 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.16168568C>G , CM000670.2:g.16168568C>G GRCh38
NC_000008.10:g.16026077C>G , CM000670.1:g.16026077C>G GRCh37
NC_000008.9:g.16070448C>G NCBI36
NG_012102.1:g.29224G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262101.10:c.520G>C MANE Select ENSP00000262101.5:p.Asp174His
ENST00000262101.9:c.520G>C ENSP00000262101.5:p.Asp174His
ENST00000350896.3:c.520G>C ENSP00000262100.3:p.Asp174His
ENST00000355282.6:c.520G>C ENSP00000347430.2:p.Asp174His
ENST00000381998.8:c.520G>C ENSP00000371428.4:p.Asp174His
ENST00000445506.6:c.574G>C ENSP00000405453.2:p.Asp192His
ENST00000519060.6:c.104-4317G>C ENSP00000428865.1:n.104-4317G>C
NM_002445.3:c.520G>C NP_002436.1:p.Asp174His
NM_138715.2:c.520G>C NP_619729.1:p.Asp174His
NM_138716.2:c.520G>C NP_619730.1:p.Asp174His
NM_001363744.1:c.574G>C NP_001350673.1:p.Asp192His
XM_024447161.1:c.574G>C XP_024302929.1:p.Asp192His
NM_138715.3:c.520G>C MANE Select NP_619729.1:p.Asp174His
NM_002445.4:c.520G>C NP_002436.1:p.Asp174His
NM_138716.3:c.520G>C NP_619730.1:p.Asp174His