Canonical Allele Identifier: CA003585

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55572
• ClinVar RCV Id: RCV000112650 ; RCV001024082 ; RCV001338089
• dbSNP Id: rs80357358
• MyVariant Identifiers: chr17:g.41199704A>G (hg19) ; chr17:g.43047687A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047687A>G , CM000679.2:g.43047687A>G	GRCh38
NC_000017.10:g.41199704A>G , CM000679.1:g.41199704A>G	GRCh37
NC_000017.9:g.38453230A>G	NCBI36
NG_005905.2:g.170297T>C , LRG_292:g.170297T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5420T>C	ENSP00000417241.2:p.Val1807Ala
ENST00000470026.6:c.5423T>C	ENSP00000419274.2:p.Val1808Ala
ENST00000473961.6:c.5297T>C	ENSP00000420201.2:p.Val1766Ala
ENST00000476777.6:c.5417T>C	ENSP00000417554.2:p.Val1806Ala
ENST00000477152.6:c.5345T>C	ENSP00000419988.2:p.Val1782Ala
ENST00000478531.6:c.2111T>C	ENSP00000420412.2:p.Val704Ala
ENST00000489037.2:c.5345T>C	ENSP00000420781.2:p.Val1782Ala
ENST00000493919.6:c.1973T>C	ENSP00000418819.2:p.Val658Ala
ENST00000494123.6:c.5423T>C	ENSP00000419103.2:p.Val1808Ala
ENST00000497488.2:c.4535T>C	ENSP00000418986.2:p.Val1512Ala
ENST00000618469.2:c.5423T>C	ENSP00000478114.2:p.Val1808Ala
ENST00000634433.2:c.5300T>C	ENSP00000489431.2:p.Val1767Ala
ENST00000644379.2:c.5489T>C	ENSP00000496570.2:p.Val1830Ala
ENST00000644555.2:c.1973T>C	ENSP00000494614.2:p.Val658Ala
ENST00000652672.2:c.5282T>C	ENSP00000498906.2:p.Val1761Ala
ENST00000484087.6:c.1985T>C	ENSP00000419481.2:p.Val662Ala
ENST00000700081.1:n.1306T>C
ENST00000700082.1:n.787T>C
ENST00000357654.9:c.5423T>C MANE Select	ENSP00000350283.3:p.Val1808Ala
ENST00000471181.7:c.5486T>C	ENSP00000418960.2:p.Val1829Ala
ENST00000644379.1:c.1810T>C
ENST00000352993.7:c.1997T>C	ENSP00000312236.5:p.Val666Ala
ENST00000357654.7:c.5423T>C	ENSP00000350283.3:p.Val1808Ala
ENST00000461221.5:c.*5206T>C	ENSP00000418548.1:n.*5206T>C
ENST00000468300.5:c.2037T>C	ENSP00000417148.1:p.Cys679=
ENST00000471181.6:c.5486T>C	ENSP00000418960.2:p.Val1829Ala
ENST00000491747.6:c.2111T>C	ENSP00000420705.2:p.Val704Ala
ENST00000493795.5:c.5282T>C	ENSP00000418775.1:p.Val1761Ala
ENST00000586385.5:c.353T>C	ENSP00000465818.1:p.Val118Ala
ENST00000591534.5:c.896T>C	ENSP00000467329.1:p.Val299Ala
ENST00000591849.5:c.122T>C	ENSP00000465347.1:p.Val41Ala
NM_007294.3:c.5423T>C , LRG_292t1:c.5423T>C	NP_009225.1:p.Val1808Ala
NM_007297.3:c.5282T>C	NP_009228.2:p.Val1761Ala
NM_007298.3:c.2111T>C	NP_009229.2:p.Val704Ala
NM_007299.3:c.2037T>C	NP_009230.2:p.Cys679=
NM_007300.3:c.5486T>C	NP_009231.2:p.Val1829Ala
NR_027676.1:n.5559T>C
NM_007294.4:c.5423T>C MANE Select	NP_009225.1:p.Val1808Ala
NM_007297.4:c.5282T>C	NP_009228.2:p.Val1761Ala
NM_007299.4:c.2037T>C	NP_009230.2:p.Cys679=
NM_007300.4:c.5486T>C	NP_009231.2:p.Val1829Ala
NR_027676.2:n.5600T>C