Canonical Allele Identifier: CA406205531

Gene: XRCC1

Linked Data

• gnomAD v4: 19-43552266-G-T
• MyVariant Identifiers: chr19:g.44056418G>T (hg19) ; chr19:g.43552266G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43552266G>T , CM000681.2:g.43552266G>T	GRCh38
NC_000019.9:g.44056418G>T , CM000681.1:g.44056418G>T	GRCh37
NC_000019.8:g.48748258G>T	NCBI36
NG_033799.1:g.28313C>A , LRG_784:g.28313C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262887.10:c.833C>A MANE Select	ENSP00000262887.5:p.Pro278Gln
ENST00000262887.9:c.833C>A	ENSP00000262887.4:p.Pro278Gln
ENST00000543982.5:c.740C>A	ENSP00000443671.1:p.Pro247Gln
ENST00000595789.5:n.954C>A
ENST00000597811.5:c.443C>A
ENST00000598165.5:c.854C>A	ENSP00000470045.1:p.Pro285Gln
ENST00000598422.1:n.513C>A
NM_006297.2:c.833C>A , LRG_784t1:c.833C>A	NP_006288.2:p.Pro278Gln
NM_006297.3:c.833C>A MANE Select	NP_006288.2:p.Pro278Gln