Canonical Allele Identifier: CA10590643
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 865470
ClinVar RCV Id: RCV001072896
dbSNP Id: rs80356920

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43047699A>G , CM000679.2:g.43047699A>G GRCh38
NC_000017.10:g.41199716A>G , CM000679.1:g.41199716A>G GRCh37
NC_000017.9:g.38453242A>G NCBI36
NG_005905.2:g.170285T>C , LRG_292:g.170285T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.5408T>C ENSP00000417241.2:p.Val1803Ala
ENST00000470026.6:c.5411T>C ENSP00000419274.2:p.Val1804Ala
ENST00000473961.6:c.5285T>C ENSP00000420201.2:p.Val1762Ala
ENST00000476777.6:c.5405T>C ENSP00000417554.2:p.Val1802Ala
ENST00000477152.6:c.5333T>C ENSP00000419988.2:p.Val1778Ala
ENST00000478531.6:c.2099T>C ENSP00000420412.2:p.Val700Ala
ENST00000489037.2:c.5333T>C ENSP00000420781.2:p.Val1778Ala
ENST00000493919.6:c.1961T>C ENSP00000418819.2:p.Val654Ala
ENST00000494123.6:c.5411T>C ENSP00000419103.2:p.Val1804Ala
ENST00000497488.2:c.4523T>C ENSP00000418986.2:p.Val1508Ala
ENST00000618469.2:c.5411T>C ENSP00000478114.2:p.Val1804Ala
ENST00000634433.2:c.5288T>C ENSP00000489431.2:p.Val1763Ala
ENST00000644379.2:c.5477T>C ENSP00000496570.2:p.Val1826Ala
ENST00000644555.2:c.1961T>C ENSP00000494614.2:p.Val654Ala
ENST00000652672.2:c.5270T>C ENSP00000498906.2:p.Val1757Ala
ENST00000484087.6:c.1973T>C ENSP00000419481.2:p.Val658Ala
ENST00000700081.1:n.1294T>C
ENST00000700082.1:n.775T>C
ENST00000357654.9:c.5411T>C MANE Select ENSP00000350283.3:p.Val1804Ala
ENST00000471181.7:c.5474T>C ENSP00000418960.2:p.Val1825Ala
ENST00000644379.1:c.1798T>C
ENST00000352993.7:c.1985T>C ENSP00000312236.5:p.Val662Ala
ENST00000357654.7:c.5411T>C ENSP00000350283.3:p.Val1804Ala
ENST00000461221.5:c.*5194T>C ENSP00000418548.1:n.*5194T>C
ENST00000468300.5:c.2025T>C ENSP00000417148.1:p.Cys675=
ENST00000471181.6:c.5474T>C ENSP00000418960.2:p.Val1825Ala
ENST00000491747.6:c.2099T>C ENSP00000420705.2:p.Val700Ala
ENST00000493795.5:c.5270T>C ENSP00000418775.1:p.Val1757Ala
ENST00000586385.5:c.341T>C ENSP00000465818.1:p.Val114Ala
ENST00000591534.5:c.884T>C ENSP00000467329.1:p.Val295Ala
ENST00000591849.5:c.110T>C ENSP00000465347.1:p.Val37Ala
NM_007294.3:c.5411T>C , LRG_292t1:c.5411T>C NP_009225.1:p.Val1804Ala
NM_007297.3:c.5270T>C NP_009228.2:p.Val1757Ala
NM_007298.3:c.2099T>C NP_009229.2:p.Val700Ala
NM_007299.3:c.2025T>C NP_009230.2:p.Cys675=
NM_007300.3:c.5474T>C NP_009231.2:p.Val1825Ala
NR_027676.1:n.5547T>C
NM_007294.4:c.5411T>C MANE Select NP_009225.1:p.Val1804Ala
NM_007297.4:c.5270T>C NP_009228.2:p.Val1757Ala
NM_007299.4:c.2025T>C NP_009230.2:p.Cys675=
NM_007300.4:c.5474T>C NP_009231.2:p.Val1825Ala
NR_027676.2:n.5588T>C