Canonical Allele Identifier: CA10591405

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 867584
• ClinVar RCV Id: RCV001076301
• dbSNP Id: rs730882166
• MyVariant Identifiers: chr17:g.41219642T>A (hg19) ; chr17:g.43067625T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067625T>A , CM000679.2:g.43067625T>A	GRCh38
NC_000017.10:g.41219642T>A , CM000679.1:g.41219642T>A	GRCh37
NC_000017.9:g.38473168T>A	NCBI36
NG_005905.2:g.150359A>T , LRG_292:g.150359A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5054A>T	ENSP00000417241.2:p.His1685Leu
ENST00000470026.6:c.5057A>T	ENSP00000419274.2:p.His1686Leu
ENST00000473961.6:c.4931A>T	ENSP00000420201.2:p.His1644Leu
ENST00000476777.6:c.5051A>T	ENSP00000417554.2:p.His1684Leu
ENST00000477152.6:c.4979A>T	ENSP00000419988.2:p.His1660Leu
ENST00000478531.6:c.1745A>T	ENSP00000420412.2:p.His582Leu
ENST00000489037.2:c.4979A>T	ENSP00000420781.2:p.His1660Leu
ENST00000493919.6:c.1607A>T	ENSP00000418819.2:p.His536Leu
ENST00000494123.6:c.5057A>T	ENSP00000419103.2:p.His1686Leu
ENST00000497488.2:c.4169A>T	ENSP00000418986.2:p.His1390Leu
ENST00000618469.2:c.5057A>T	ENSP00000478114.2:p.His1686Leu
ENST00000634433.2:c.4934A>T	ENSP00000489431.2:p.His1645Leu
ENST00000644379.2:c.5123A>T	ENSP00000496570.2:p.His1708Leu
ENST00000644555.2:c.1607A>T	ENSP00000494614.2:p.His536Leu
ENST00000652672.2:c.4916A>T	ENSP00000498906.2:p.His1639Leu
ENST00000484087.6:c.1619A>T	ENSP00000419481.2:p.His540Leu
ENST00000357654.9:c.5057A>T MANE Select	ENSP00000350283.3:p.His1686Leu
ENST00000471181.7:c.5120A>T	ENSP00000418960.2:p.His1707Leu
ENST00000644379.1:c.1444A>T
ENST00000352993.7:c.1631A>T	ENSP00000312236.5:p.His544Leu
ENST00000357654.7:c.5057A>T	ENSP00000350283.3:p.His1686Leu
ENST00000461221.5:c.*4840A>T	ENSP00000418548.1:n.*4840A>T
ENST00000468300.5:c.1745A>T	ENSP00000417148.1:p.His582Leu
ENST00000471181.6:c.5120A>T	ENSP00000418960.2:p.His1707Leu
ENST00000472490.1:n.210A>T
ENST00000478531.5:c.1745A>T	ENSP00000420412.1:p.His582Leu
ENST00000484087.5:c.1370A>T	ENSP00000419481.1:p.His457Leu
ENST00000491747.6:c.1745A>T	ENSP00000420705.2:p.His582Leu
ENST00000493795.5:c.4916A>T	ENSP00000418775.1:p.His1639Leu
ENST00000493919.5:c.1607A>T	ENSP00000418819.1:p.His536Leu
ENST00000586385.5:c.5-3674A>T	ENSP00000465818.1:n.5-3674A>T
ENST00000591534.5:c.530A>T	ENSP00000467329.1:p.His177Leu
ENST00000591849.5:c.-98-17435A>T	ENSP00000465347.1:n.-98-17435A>T
NM_007294.3:c.5057A>T , LRG_292t1:c.5057A>T	NP_009225.1:p.His1686Leu
NM_007297.3:c.4916A>T	NP_009228.2:p.His1639Leu
NM_007298.3:c.1745A>T	NP_009229.2:p.His582Leu
NM_007299.3:c.1745A>T	NP_009230.2:p.His582Leu
NM_007300.3:c.5120A>T	NP_009231.2:p.His1707Leu
NR_027676.1:n.5193A>T
NM_007294.4:c.5057A>T MANE Select	NP_009225.1:p.His1686Leu
NM_007297.4:c.4916A>T	NP_009228.2:p.His1639Leu
NM_007299.4:c.1745A>T	NP_009230.2:p.His582Leu
NM_007300.4:c.5120A>T	NP_009231.2:p.His1707Leu
NR_027676.2:n.5234A>T