Canonical Allele Identifier: CA003150

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 141071
• ClinVar RCV Id: RCV000129418 ; RCV001857438 ; RCV001077429
• dbSNP Id: rs587781472
• MyVariant Identifiers: chr17:g.41219697A>T (hg19) ; chr17:g.43067680A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067680A>T , CM000679.2:g.43067680A>T	GRCh38
NC_000017.10:g.41219697A>T , CM000679.1:g.41219697A>T	GRCh37
NC_000017.9:g.38473223A>T	NCBI36
NG_005905.2:g.150304T>A , LRG_292:g.150304T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4999T>A	ENSP00000417241.2:p.Phe1667Ile
ENST00000470026.6:c.5002T>A	ENSP00000419274.2:p.Phe1668Ile
ENST00000473961.6:c.4876T>A	ENSP00000420201.2:p.Phe1626Ile
ENST00000476777.6:c.4996T>A	ENSP00000417554.2:p.Phe1666Ile
ENST00000477152.6:c.4924T>A	ENSP00000419988.2:p.Phe1642Ile
ENST00000478531.6:c.1690T>A	ENSP00000420412.2:p.Phe564Ile
ENST00000489037.2:c.4924T>A	ENSP00000420781.2:p.Phe1642Ile
ENST00000493919.6:c.1552T>A	ENSP00000418819.2:p.Phe518Ile
ENST00000494123.6:c.5002T>A	ENSP00000419103.2:p.Phe1668Ile
ENST00000497488.2:c.4114T>A	ENSP00000418986.2:p.Phe1372Ile
ENST00000618469.2:c.5002T>A	ENSP00000478114.2:p.Phe1668Ile
ENST00000634433.2:c.4879T>A	ENSP00000489431.2:p.Phe1627Ile
ENST00000644379.2:c.5068T>A	ENSP00000496570.2:p.Phe1690Ile
ENST00000644555.2:c.1552T>A	ENSP00000494614.2:p.Phe518Ile
ENST00000652672.2:c.4861T>A	ENSP00000498906.2:p.Phe1621Ile
ENST00000484087.6:c.1564T>A	ENSP00000419481.2:p.Phe522Ile
ENST00000357654.9:c.5002T>A MANE Select	ENSP00000350283.3:p.Phe1668Ile
ENST00000471181.7:c.5065T>A	ENSP00000418960.2:p.Phe1689Ile
ENST00000644379.1:c.1389T>A
ENST00000352993.7:c.1576T>A	ENSP00000312236.5:p.Phe526Ile
ENST00000357654.7:c.5002T>A	ENSP00000350283.3:p.Phe1668Ile
ENST00000461221.5:c.*4785T>A	ENSP00000418548.1:n.*4785T>A
ENST00000468300.5:c.1690T>A	ENSP00000417148.1:p.Phe564Ile
ENST00000471181.6:c.5065T>A	ENSP00000418960.2:p.Phe1689Ile
ENST00000472490.1:n.155T>A
ENST00000478531.5:c.1690T>A	ENSP00000420412.1:p.Phe564Ile
ENST00000484087.5:c.1315T>A	ENSP00000419481.1:p.Phe439Ile
ENST00000491747.6:c.1690T>A	ENSP00000420705.2:p.Phe564Ile
ENST00000493795.5:c.4861T>A	ENSP00000418775.1:p.Phe1621Ile
ENST00000493919.5:c.1552T>A	ENSP00000418819.1:p.Phe518Ile
ENST00000586385.5:c.5-3729T>A	ENSP00000465818.1:n.5-3729T>A
ENST00000591534.5:c.475T>A	ENSP00000467329.1:p.Phe159Ile
ENST00000591849.5:c.-98-17490T>A	ENSP00000465347.1:n.-98-17490T>A
NM_007294.3:c.5002T>A , LRG_292t1:c.5002T>A	NP_009225.1:p.Phe1668Ile
NM_007297.3:c.4861T>A	NP_009228.2:p.Phe1621Ile
NM_007298.3:c.1690T>A	NP_009229.2:p.Phe564Ile
NM_007299.3:c.1690T>A	NP_009230.2:p.Phe564Ile
NM_007300.3:c.5065T>A	NP_009231.2:p.Phe1689Ile
NR_027676.1:n.5138T>A
NM_007294.4:c.5002T>A MANE Select	NP_009225.1:p.Phe1668Ile
NM_007297.4:c.4861T>A	NP_009228.2:p.Phe1621Ile
NM_007299.4:c.1690T>A	NP_009230.2:p.Phe564Ile
NM_007300.4:c.5065T>A	NP_009231.2:p.Phe1689Ile
NR_027676.2:n.5179T>A