Canonical Allele Identifier: CA10590589

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 825725
• ClinVar RCV Id: RCV001024087 ; RCV001072912
• dbSNP Id: rs80357216
• MyVariant Identifiers: chr17:g.41199701A>T (hg19) ; chr17:g.43047684A>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5423T>A	ENSP00000417241.2:p.Val1808Asp
ENST00000470026.6:c.5426T>A	ENSP00000419274.2:p.Val1809Asp
ENST00000473961.6:c.5300T>A	ENSP00000420201.2:p.Val1767Asp
ENST00000476777.6:c.5420T>A	ENSP00000417554.2:p.Val1807Asp
ENST00000477152.6:c.5348T>A	ENSP00000419988.2:p.Val1783Asp
ENST00000478531.6:c.2114T>A	ENSP00000420412.2:p.Val705Asp
ENST00000489037.2:c.5348T>A	ENSP00000420781.2:p.Val1783Asp
ENST00000493919.6:c.1976T>A	ENSP00000418819.2:p.Val659Asp
ENST00000494123.6:c.5426T>A	ENSP00000419103.2:p.Val1809Asp
ENST00000497488.2:c.4538T>A	ENSP00000418986.2:p.Val1513Asp
ENST00000618469.2:c.5426T>A	ENSP00000478114.2:p.Val1809Asp
ENST00000634433.2:c.5303T>A	ENSP00000489431.2:p.Val1768Asp
ENST00000644379.2:c.5492T>A	ENSP00000496570.2:p.Val1831Asp
ENST00000644555.2:c.1976T>A	ENSP00000494614.2:p.Val659Asp
ENST00000652672.2:c.5285T>A	ENSP00000498906.2:p.Val1762Asp
ENST00000484087.6:c.1988T>A	ENSP00000419481.2:p.Val663Asp
ENST00000700081.1:n.1309T>A
ENST00000700082.1:n.790T>A
ENST00000357654.9:c.5426T>A MANE Select	ENSP00000350283.3:p.Val1809Asp
ENST00000471181.7:c.5489T>A	ENSP00000418960.2:p.Val1830Asp
ENST00000644379.1:c.1813T>A
ENST00000352993.7:c.2000T>A	ENSP00000312236.5:p.Val667Asp
ENST00000357654.7:c.5426T>A	ENSP00000350283.3:p.Val1809Asp
ENST00000461221.5:c.*5209T>A	ENSP00000418548.1:n.*5209T>A
ENST00000468300.5:c.2040T>A	ENSP00000417148.1:p.Gly680=
ENST00000471181.6:c.5489T>A	ENSP00000418960.2:p.Val1830Asp
ENST00000491747.6:c.2114T>A	ENSP00000420705.2:p.Val705Asp
ENST00000493795.5:c.5285T>A	ENSP00000418775.1:p.Val1762Asp
ENST00000586385.5:c.356T>A	ENSP00000465818.1:p.Val119Asp
ENST00000591534.5:c.899T>A	ENSP00000467329.1:p.Val300Asp
ENST00000591849.5:c.125T>A	ENSP00000465347.1:p.Val42Asp
NM_007294.3:c.5426T>A , LRG_292t1:c.5426T>A	NP_009225.1:p.Val1809Asp
NM_007297.3:c.5285T>A	NP_009228.2:p.Val1762Asp
NM_007298.3:c.2114T>A	NP_009229.2:p.Val705Asp
NM_007299.3:c.2040T>A	NP_009230.2:p.Gly680=
NM_007300.3:c.5489T>A	NP_009231.2:p.Val1830Asp
NR_027676.1:n.5562T>A
NM_007294.4:c.5426T>A MANE Select	NP_009225.1:p.Val1809Asp
NM_007297.4:c.5285T>A	NP_009228.2:p.Val1762Asp
NM_007299.4:c.2040T>A	NP_009230.2:p.Gly680=
NM_007300.4:c.5489T>A	NP_009231.2:p.Val1830Asp
NR_027676.2:n.5603T>A