Canonical Allele Identifier: CA9488737

Gene: XRCC1

Linked Data

• ClinVar Variation Id: 376355
• ClinVar RCV Id: RCV000444869 ; RCV001637014
• dbSNP Id: rs1799782
• ExAC: 19:44057574 G / A
• gnomAD v2: 19-44057574-G-A
• gnomAD v3: 19-43553422-G-A
• gnomAD v4: 19-43553422-G-A
• MyVariant Identifiers: chr19:g.44057574G>A (hg19) ; chr19:g.43553422G>A (hg38)
• PubMed: PMID:19157633
• CIViC: CA9488737

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43553422G>A , CM000681.2:g.43553422G>A	GRCh38
NC_000019.9:g.44057574G>A , CM000681.1:g.44057574G>A	GRCh37
NC_000019.8:g.48749414G>A	NCBI36
NG_033799.1:g.27157C>T , LRG_784:g.27157C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262887.10:c.580C>T MANE Select	ENSP00000262887.5:p.Arg194Trp
ENST00000262887.9:c.580C>T	ENSP00000262887.4:p.Arg194Trp
ENST00000543982.5:c.487C>T	ENSP00000443671.1:p.Arg163Trp
ENST00000594107.1:c.469C>T	ENSP00000471159.1:p.Arg157Trp
ENST00000595789.5:n.628C>T
ENST00000597811.5:c.365C>T
ENST00000598165.5:c.601C>T	ENSP00000470045.1:p.Arg201Trp
ENST00000598422.1:n.260C>T
ENST00000599693.5:c.506C>T
NM_006297.2:c.580C>T , LRG_784t1:c.580C>T	NP_006288.2:p.Arg194Trp
NM_006297.3:c.580C>T MANE Select	NP_006288.2:p.Arg194Trp