Canonical Allele Identifier: CA9488737
Gene: XRCC1 HGNC NCBI
CIViC:
CA9488737
COSMIC:
COSM3756908 (not active)
MyVariant.info:
GRCh38 chr19:g.43553422G>A
GRCh37 chr19:g.44057574G>A
Revel Score:
ENST00000458471 0.198
ENST00000262887 (MANE Select) 0.198
ENST00000543982 0.198
ENST00000538738 0.198
gnomAD v2:
19:44057574 G / A
gnomAD v3:
19:43553422 G / A
gnomAD v4:
chr19-43553422-G-A
Joint Max Group AF 0.29850322 (EAS)
Genomes Max Group AF 0.28011613 (EAS)
Exomes Max Group AF 0.29957205 (EAS)
ClinVar RCV:
RCV000444869
RCV001637014
ClinVar Variation:
376355
dbSNP:
1799782
JSON-LD

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
Search 100 bp 5'
Search 100 bp 3'