Canonical Allele Identifier: CA003589

Gene: BRCA1

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047684A>G , CM000679.2:g.43047684A>G	GRCh38
NC_000017.10:g.41199701A>G , CM000679.1:g.41199701A>G	GRCh37
NC_000017.9:g.38453227A>G	NCBI36
NG_005905.2:g.170300T>C , LRG_292:g.170300T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5423T>C	ENSP00000417241.2:p.Val1808Ala
ENST00000470026.6:c.5426T>C	ENSP00000419274.2:p.Val1809Ala
ENST00000473961.6:c.5300T>C	ENSP00000420201.2:p.Val1767Ala
ENST00000476777.6:c.5420T>C	ENSP00000417554.2:p.Val1807Ala
ENST00000477152.6:c.5348T>C	ENSP00000419988.2:p.Val1783Ala
ENST00000478531.6:c.2114T>C	ENSP00000420412.2:p.Val705Ala
ENST00000489037.2:c.5348T>C	ENSP00000420781.2:p.Val1783Ala
ENST00000493919.6:c.1976T>C	ENSP00000418819.2:p.Val659Ala
ENST00000494123.6:c.5426T>C	ENSP00000419103.2:p.Val1809Ala
ENST00000497488.2:c.4538T>C	ENSP00000418986.2:p.Val1513Ala
ENST00000618469.2:c.5426T>C	ENSP00000478114.2:p.Val1809Ala
ENST00000634433.2:c.5303T>C	ENSP00000489431.2:p.Val1768Ala
ENST00000644379.2:c.5492T>C	ENSP00000496570.2:p.Val1831Ala
ENST00000644555.2:c.1976T>C	ENSP00000494614.2:p.Val659Ala
ENST00000652672.2:c.5285T>C	ENSP00000498906.2:p.Val1762Ala
ENST00000484087.6:c.1988T>C	ENSP00000419481.2:p.Val663Ala
ENST00000700081.1:n.1309T>C
ENST00000700082.1:n.790T>C
ENST00000357654.9:c.5426T>C MANE Select	ENSP00000350283.3:p.Val1809Ala
ENST00000471181.7:c.5489T>C	ENSP00000418960.2:p.Val1830Ala
ENST00000644379.1:c.1813T>C
ENST00000352993.7:c.2000T>C	ENSP00000312236.5:p.Val667Ala
ENST00000357654.7:c.5426T>C	ENSP00000350283.3:p.Val1809Ala
ENST00000461221.5:c.*5209T>C	ENSP00000418548.1:n.*5209T>C
ENST00000468300.5:c.2040T>C	ENSP00000417148.1:p.Gly680=
ENST00000471181.6:c.5489T>C	ENSP00000418960.2:p.Val1830Ala
ENST00000491747.6:c.2114T>C	ENSP00000420705.2:p.Val705Ala
ENST00000493795.5:c.5285T>C	ENSP00000418775.1:p.Val1762Ala
ENST00000586385.5:c.356T>C	ENSP00000465818.1:p.Val119Ala
ENST00000591534.5:c.899T>C	ENSP00000467329.1:p.Val300Ala
ENST00000591849.5:c.125T>C	ENSP00000465347.1:p.Val42Ala
NM_007294.3:c.5426T>C , LRG_292t1:c.5426T>C	NP_009225.1:p.Val1809Ala
NM_007297.3:c.5285T>C	NP_009228.2:p.Val1762Ala
NM_007298.3:c.2114T>C	NP_009229.2:p.Val705Ala
NM_007299.3:c.2040T>C	NP_009230.2:p.Gly680=
NM_007300.3:c.5489T>C	NP_009231.2:p.Val1830Ala
NR_027676.1:n.5562T>C
NM_007294.4:c.5426T>C MANE Select	NP_009225.1:p.Val1809Ala
NM_007297.4:c.5285T>C	NP_009228.2:p.Val1762Ala
NM_007299.4:c.2040T>C	NP_009230.2:p.Gly680=
NM_007300.4:c.5489T>C	NP_009231.2:p.Val1830Ala
NR_027676.2:n.5603T>C