Canonical Allele Identifier: CA406203334

Gene: XRCC1

Linked Data

• dbSNP Id: rs2146048929
• gnomAD v4: 19-43551610-A-G
• MyVariant Identifiers: chr19:g.44055762A>G (hg19) ; chr19:g.43551610A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43551610A>G , CM000681.2:g.43551610A>G	GRCh38
NC_000019.9:g.44055762A>G , CM000681.1:g.44055762A>G	GRCh37
NC_000019.8:g.48747602A>G	NCBI36
NG_033799.1:g.28969T>C , LRG_784:g.28969T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262887.10:c.1160T>C MANE Select	ENSP00000262887.5:p.Leu387Pro
ENST00000262887.9:c.1160T>C	ENSP00000262887.4:p.Leu387Pro
ENST00000543982.5:c.1067T>C	ENSP00000443671.1:p.Leu356Pro
ENST00000597811.5:c.770T>C
NM_006297.2:c.1160T>C , LRG_784t1:c.1160T>C	NP_006288.2:p.Leu387Pro
NM_006297.3:c.1160T>C MANE Select	NP_006288.2:p.Leu387Pro