Canonical Allele Identifier: CA9488534
Gene: XRCC1 HGNC NCBI

Linked Data

dbSNP Id: rs2271980
ExAC: 19:44055781 C / T
gnomAD v2: 19-44055781-C-T
gnomAD v3: 19-43551629-C-T
gnomAD v4: 19-43551629-C-T
COSMIC: COSM3404348
MyVariant Identifiers: chr19:g.44055781C>T (hg19) chr19:g.43551629C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.43551629C>T , CM000681.2:g.43551629C>T GRCh38
NC_000019.9:g.44055781C>T , CM000681.1:g.44055781C>T GRCh37
NC_000019.8:g.48747621C>T NCBI36
NG_033799.1:g.28950G>A , LRG_784:g.28950G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262887.10:c.1141G>A MANE Select ENSP00000262887.5:p.Val381Met
ENST00000262887.9:c.1141G>A ENSP00000262887.4:p.Val381Met
ENST00000543982.5:c.1048G>A ENSP00000443671.1:p.Val350Met
ENST00000597811.5:c.751G>A
NM_006297.2:c.1141G>A , LRG_784t1:c.1141G>A NP_006288.2:p.Val381Met
NM_006297.3:c.1141G>A MANE Select NP_006288.2:p.Val381Met
Search 100 bp 5'
Search 100 bp 3'