Canonical Allele Identifier: CA406204975

Gene: XRCC1

Linked Data

• MyVariant Identifiers: chr19:g.44056322C>A (hg19) ; chr19:g.43552170C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43552170C>A , CM000681.2:g.43552170C>A	GRCh38
NC_000019.9:g.44056322C>A , CM000681.1:g.44056322C>A	GRCh37
NC_000019.8:g.48748162C>A	NCBI36
NG_033799.1:g.28409G>T , LRG_784:g.28409G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262887.10:c.929G>T MANE Select	ENSP00000262887.5:p.Arg310Leu
ENST00000262887.9:c.929G>T	ENSP00000262887.4:p.Arg310Leu
ENST00000543982.5:c.836G>T	ENSP00000443671.1:p.Arg279Leu
ENST00000595789.5:n.1050G>T
ENST00000597811.5:c.539G>T
ENST00000598422.1:n.609G>T
NM_006297.2:c.929G>T , LRG_784t1:c.929G>T	NP_006288.2:p.Arg310Leu
NM_006297.3:c.929G>T MANE Select	NP_006288.2:p.Arg310Leu