Canonical Allele Identifier: CA003530
Gene: BRCA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 37660
dbSNP Id: rs80357069

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43049164C>A , CM000679.2:g.43049164C>A GRCh38
NC_000017.9:g.38454707C>A NCBI36
NC_000017.10:g.41201181C>A , CM000679.1:g.41201181C>A GRCh37
NG_005905.2:g.168820G>T , LRG_292:g.168820G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000352993.7:c.1937G>T ENSP00000312236.5:p.Gly646Val
ENST00000357654.7:c.5363G>T ENSP00000350283.3:p.Gly1788Val
ENST00000461221.5:c.*5146G>T ENSP00000418548.1:p.=
ENST00000468300.5:c.2021-1461G>T ENSP00000417148.1:p.=
ENST00000471181.6:c.5426G>T ENSP00000418960.2:p.Gly1809Val
ENST00000491747.6:c.2051G>T ENSP00000420705.2:p.Gly684Val
ENST00000493795.5:c.5222G>T ENSP00000418775.1:p.Gly1741Val
ENST00000586385.5:c.293G>T ENSP00000465818.1:p.Gly98Val
ENST00000591534.5:c.836G>T ENSP00000467329.1:p.Gly279Val
ENST00000591849.5:c.62G>T ENSP00000465347.1:p.Gly21Val
NM_007294.3:c.5363G>T , LRG_292t1:c.5363G>T NP_009225.1:p.Gly1788Val
NM_007297.3:c.5222G>T NP_009228.2:p.Gly1741Val
NM_007298.3:c.2051G>T NP_009229.2:p.Gly684Val
NM_007299.3:c.2021-1461G>T NP_009230.2:p.=
NM_007300.3:c.5426G>T NP_009231.2:p.Gly1809Val
NR_027676.1:n.5499G>T