Canonical Allele Identifier: CA2260761985

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047657T= , CM000679.2:g.43047657T=	GRCh38
NC_000017.10:g.41199674T= , CM000679.1:g.41199674T=	GRCh37
NC_000017.9:g.38453200T=	NCBI36
NG_005905.2:g.170327A= , LRG_292:g.170327A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5450A=	ENSP00000417241.2:p.Asp1817=
ENST00000470026.6:c.5453A=	ENSP00000419274.2:p.Asp1818=
ENST00000473961.6:c.5327A=	ENSP00000420201.2:p.Asp1776=
ENST00000476777.6:c.5447A=	ENSP00000417554.2:p.Asp1816=
ENST00000477152.6:c.5375A=	ENSP00000419988.2:p.Asp1792=
ENST00000478531.6:c.2141A=	ENSP00000420412.2:p.Asp714=
ENST00000489037.2:c.5375A=	ENSP00000420781.2:p.Asp1792=
ENST00000493919.6:c.2003A=	ENSP00000418819.2:p.Asp668=
ENST00000494123.6:c.5453A=	ENSP00000419103.2:p.Asp1818=
ENST00000497488.2:c.4565A=	ENSP00000418986.2:p.Asp1522=
ENST00000618469.2:c.5453A=	ENSP00000478114.2:p.Asp1818=
ENST00000634433.2:c.5330A=	ENSP00000489431.2:p.Asp1777=
ENST00000644379.2:c.5519A=	ENSP00000496570.2:p.Asp1840=
ENST00000644555.2:c.2003A=	ENSP00000494614.2:p.Asp668=
ENST00000652672.2:c.5312A=	ENSP00000498906.2:p.Asp1771=
ENST00000484087.6:c.2015A=	ENSP00000419481.2:p.Asp672=
ENST00000700081.1:n.1336A=
ENST00000700082.1:n.817A=
ENST00000357654.9:c.5453A= MANE Select	ENSP00000350283.3:p.Asp1818=
ENST00000471181.7:c.5516A=	ENSP00000418960.2:p.Asp1839=
ENST00000644379.1:c.1840A=
ENST00000352993.7:c.2027A=	ENSP00000312236.5:p.Asp676=
ENST00000357654.7:c.5453A=	ENSP00000350283.3:p.Asp1818=
ENST00000461221.5:c.*5236A=	ENSP00000418548.1:n.*5236A=
ENST00000468300.5:c.2067A=	ENSP00000417148.1:p.Gly689=
ENST00000471181.6:c.5516A=	ENSP00000418960.2:p.Asp1839=
ENST00000491747.6:c.2141A=	ENSP00000420705.2:p.Asp714=
ENST00000493795.5:c.5312A=	ENSP00000418775.1:p.Asp1771=
ENST00000586385.5:c.383A=	ENSP00000465818.1:p.Asp128=
ENST00000591534.5:c.926A=	ENSP00000467329.1:p.Asp309=
ENST00000591849.5:c.152A=	ENSP00000465347.1:p.Asp51=
NM_007294.3:c.5453A= , LRG_292t1:c.5453A=	NP_009225.1:p.Asp1818=
NM_007297.3:c.5312A=	NP_009228.2:p.Asp1771=
NM_007298.3:c.2141A=	NP_009229.2:p.Asp714=
NM_007299.3:c.2067A=	NP_009230.2:p.Gly689=
NM_007300.3:c.5516A=	NP_009231.2:p.Asp1839=
NR_027676.1:n.5589A=
NM_007294.4:c.5453A= MANE Select	NP_009225.1:p.Asp1818=
NM_007297.4:c.5312A=	NP_009228.2:p.Asp1771=
NM_007299.4:c.2067A=	NP_009230.2:p.Gly689=
NM_007300.4:c.5516A=	NP_009231.2:p.Asp1839=
NR_027676.2:n.5630A=