Canonical Allele Identifier: CA10591511

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 868914
• ClinVar RCV Id: RCV001077912
• dbSNP Id: rs2052185251
• MyVariant Identifiers: chr17:g.41219695A>T (hg19) ; chr17:g.43067678A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067678A>T , CM000679.2:g.43067678A>T	GRCh38
NC_000017.10:g.41219695A>T , CM000679.1:g.41219695A>T	GRCh37
NC_000017.9:g.38473221A>T	NCBI36
NG_005905.2:g.150306T>A , LRG_292:g.150306T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5001T>A	ENSP00000417241.2:p.Phe1667Leu
ENST00000470026.6:c.5004T>A	ENSP00000419274.2:p.Phe1668Leu
ENST00000473961.6:c.4878T>A	ENSP00000420201.2:p.Phe1626Leu
ENST00000476777.6:c.4998T>A	ENSP00000417554.2:p.Phe1666Leu
ENST00000477152.6:c.4926T>A	ENSP00000419988.2:p.Phe1642Leu
ENST00000478531.6:c.1692T>A	ENSP00000420412.2:p.Phe564Leu
ENST00000489037.2:c.4926T>A	ENSP00000420781.2:p.Phe1642Leu
ENST00000493919.6:c.1554T>A	ENSP00000418819.2:p.Phe518Leu
ENST00000494123.6:c.5004T>A	ENSP00000419103.2:p.Phe1668Leu
ENST00000497488.2:c.4116T>A	ENSP00000418986.2:p.Phe1372Leu
ENST00000618469.2:c.5004T>A	ENSP00000478114.2:p.Phe1668Leu
ENST00000634433.2:c.4881T>A	ENSP00000489431.2:p.Phe1627Leu
ENST00000644379.2:c.5070T>A	ENSP00000496570.2:p.Phe1690Leu
ENST00000644555.2:c.1554T>A	ENSP00000494614.2:p.Phe518Leu
ENST00000652672.2:c.4863T>A	ENSP00000498906.2:p.Phe1621Leu
ENST00000484087.6:c.1566T>A	ENSP00000419481.2:p.Phe522Leu
ENST00000357654.9:c.5004T>A MANE Select	ENSP00000350283.3:p.Phe1668Leu
ENST00000471181.7:c.5067T>A	ENSP00000418960.2:p.Phe1689Leu
ENST00000644379.1:c.1391T>A
ENST00000352993.7:c.1578T>A	ENSP00000312236.5:p.Phe526Leu
ENST00000357654.7:c.5004T>A	ENSP00000350283.3:p.Phe1668Leu
ENST00000461221.5:c.*4787T>A	ENSP00000418548.1:n.*4787T>A
ENST00000468300.5:c.1692T>A	ENSP00000417148.1:p.Phe564Leu
ENST00000471181.6:c.5067T>A	ENSP00000418960.2:p.Phe1689Leu
ENST00000472490.1:n.157T>A
ENST00000478531.5:c.1692T>A	ENSP00000420412.1:p.Phe564Leu
ENST00000484087.5:c.1317T>A	ENSP00000419481.1:p.Phe439Leu
ENST00000491747.6:c.1692T>A	ENSP00000420705.2:p.Phe564Leu
ENST00000493795.5:c.4863T>A	ENSP00000418775.1:p.Phe1621Leu
ENST00000493919.5:c.1554T>A	ENSP00000418819.1:p.Phe518Leu
ENST00000586385.5:c.5-3727T>A	ENSP00000465818.1:n.5-3727T>A
ENST00000591534.5:c.477T>A	ENSP00000467329.1:p.Phe159Leu
ENST00000591849.5:c.-98-17488T>A	ENSP00000465347.1:n.-98-17488T>A
NM_007294.3:c.5004T>A , LRG_292t1:c.5004T>A	NP_009225.1:p.Phe1668Leu
NM_007297.3:c.4863T>A	NP_009228.2:p.Phe1621Leu
NM_007298.3:c.1692T>A	NP_009229.2:p.Phe564Leu
NM_007299.3:c.1692T>A	NP_009230.2:p.Phe564Leu
NM_007300.3:c.5067T>A	NP_009231.2:p.Phe1689Leu
NR_027676.1:n.5140T>A
NM_007294.4:c.5004T>A MANE Select	NP_009225.1:p.Phe1668Leu
NM_007297.4:c.4863T>A	NP_009228.2:p.Phe1621Leu
NM_007299.4:c.1692T>A	NP_009230.2:p.Phe564Leu
NM_007300.4:c.5067T>A	NP_009231.2:p.Phe1689Leu
NR_027676.2:n.5181T>A