Canonical Allele Identifier: CA500146342

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 868953
• ClinVar RCV Id: RCV001077955 ; RCV002069598
• dbSNP Id: rs2052169752
• MyVariant Identifiers: chr17:g.41219659A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067642A>T , CM000679.2:g.43067642A>T	GRCh38
NC_000017.10:g.41219659A>T , CM000679.1:g.41219659A>T	GRCh37
NC_000017.9:g.38473185A>T	NCBI36
NG_005905.2:g.150342T>A , LRG_292:g.150342T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5037T>A	ENSP00000417241.2:p.Ile1679=
ENST00000470026.6:c.5040T>A	ENSP00000419274.2:p.Ile1680=
ENST00000473961.6:c.4914T>A	ENSP00000420201.2:p.Ile1638=
ENST00000476777.6:c.5034T>A	ENSP00000417554.2:p.Ile1678=
ENST00000477152.6:c.4962T>A	ENSP00000419988.2:p.Ile1654=
ENST00000478531.6:c.1728T>A	ENSP00000420412.2:p.Ile576=
ENST00000489037.2:c.4962T>A	ENSP00000420781.2:p.Ile1654=
ENST00000493919.6:c.1590T>A	ENSP00000418819.2:p.Ile530=
ENST00000494123.6:c.5040T>A	ENSP00000419103.2:p.Ile1680=
ENST00000497488.2:c.4152T>A	ENSP00000418986.2:p.Ile1384=
ENST00000618469.2:c.5040T>A	ENSP00000478114.2:p.Ile1680=
ENST00000634433.2:c.4917T>A	ENSP00000489431.2:p.Ile1639=
ENST00000644379.2:c.5106T>A	ENSP00000496570.2:p.Ile1702=
ENST00000644555.2:c.1590T>A	ENSP00000494614.2:p.Ile530=
ENST00000652672.2:c.4899T>A	ENSP00000498906.2:p.Ile1633=
ENST00000484087.6:c.1602T>A	ENSP00000419481.2:p.Ile534=
ENST00000357654.9:c.5040T>A MANE Select	ENSP00000350283.3:p.Ile1680=
ENST00000471181.7:c.5103T>A	ENSP00000418960.2:p.Ile1701=
ENST00000644379.1:c.1427T>A
ENST00000352993.7:c.1614T>A	ENSP00000312236.5:p.Ile538=
ENST00000357654.7:c.5040T>A	ENSP00000350283.3:p.Ile1680=
ENST00000461221.5:c.*4823T>A	ENSP00000418548.1:n.*4823T>A
ENST00000468300.5:c.1728T>A	ENSP00000417148.1:p.Ile576=
ENST00000471181.6:c.5103T>A	ENSP00000418960.2:p.Ile1701=
ENST00000472490.1:n.193T>A
ENST00000478531.5:c.1728T>A	ENSP00000420412.1:p.Ile576=
ENST00000484087.5:c.1353T>A	ENSP00000419481.1:p.Ile451=
ENST00000491747.6:c.1728T>A	ENSP00000420705.2:p.Ile576=
ENST00000493795.5:c.4899T>A	ENSP00000418775.1:p.Ile1633=
ENST00000493919.5:c.1590T>A	ENSP00000418819.1:p.Ile530=
ENST00000586385.5:c.5-3691T>A	ENSP00000465818.1:n.5-3691T>A
ENST00000591534.5:c.513T>A	ENSP00000467329.1:p.Ile171=
ENST00000591849.5:c.-98-17452T>A	ENSP00000465347.1:n.-98-17452T>A
NM_007294.3:c.5040T>A , LRG_292t1:c.5040T>A	NP_009225.1:p.Ile1680=
NM_007297.3:c.4899T>A	NP_009228.2:p.Ile1633=
NM_007298.3:c.1728T>A	NP_009229.2:p.Ile576=
NM_007299.3:c.1728T>A	NP_009230.2:p.Ile576=
NM_007300.3:c.5103T>A	NP_009231.2:p.Ile1701=
NR_027676.1:n.5176T>A
NM_007294.4:c.5040T>A MANE Select	NP_009225.1:p.Ile1680=
NM_007297.4:c.4899T>A	NP_009228.2:p.Ile1633=
NM_007299.4:c.1728T>A	NP_009230.2:p.Ile576=
NM_007300.4:c.5103T>A	NP_009231.2:p.Ile1701=
NR_027676.2:n.5217T>A