Canonical Allele Identifier: CA2260761990

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047661C= , CM000679.2:g.43047661C=	GRCh38
NC_000017.10:g.41199678C= , CM000679.1:g.41199678C=	GRCh37
NC_000017.9:g.38453204C=	NCBI36
NG_005905.2:g.170323G= , LRG_292:g.170323G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5446G=	ENSP00000417241.2:p.Glu1816=
ENST00000470026.6:c.5449G=	ENSP00000419274.2:p.Glu1817=
ENST00000473961.6:c.5323G=	ENSP00000420201.2:p.Glu1775=
ENST00000476777.6:c.5443G=	ENSP00000417554.2:p.Glu1815=
ENST00000477152.6:c.5371G=	ENSP00000419988.2:p.Glu1791=
ENST00000478531.6:c.2137G=	ENSP00000420412.2:p.Glu713=
ENST00000489037.2:c.5371G=	ENSP00000420781.2:p.Glu1791=
ENST00000493919.6:c.1999G=	ENSP00000418819.2:p.Glu667=
ENST00000494123.6:c.5449G=	ENSP00000419103.2:p.Glu1817=
ENST00000497488.2:c.4561G=	ENSP00000418986.2:p.Glu1521=
ENST00000618469.2:c.5449G=	ENSP00000478114.2:p.Glu1817=
ENST00000634433.2:c.5326G=	ENSP00000489431.2:p.Glu1776=
ENST00000644379.2:c.5515G=	ENSP00000496570.2:p.Glu1839=
ENST00000644555.2:c.1999G=	ENSP00000494614.2:p.Glu667=
ENST00000652672.2:c.5308G=	ENSP00000498906.2:p.Glu1770=
ENST00000484087.6:c.2011G=	ENSP00000419481.2:p.Glu671=
ENST00000700081.1:n.1332G=
ENST00000700082.1:n.813G=
ENST00000357654.9:c.5449G= MANE Select	ENSP00000350283.3:p.Glu1817=
ENST00000471181.7:c.5512G=	ENSP00000418960.2:p.Glu1838=
ENST00000644379.1:c.1836G=
ENST00000352993.7:c.2023G=	ENSP00000312236.5:p.Glu675=
ENST00000357654.7:c.5449G=	ENSP00000350283.3:p.Glu1817=
ENST00000461221.5:c.*5232G=	ENSP00000418548.1:n.*5232G=
ENST00000468300.5:c.2063G=	ENSP00000417148.1:p.Arg688=
ENST00000471181.6:c.5512G=	ENSP00000418960.2:p.Glu1838=
ENST00000491747.6:c.2137G=	ENSP00000420705.2:p.Glu713=
ENST00000493795.5:c.5308G=	ENSP00000418775.1:p.Glu1770=
ENST00000586385.5:c.379G=	ENSP00000465818.1:p.Glu127=
ENST00000591534.5:c.922G=	ENSP00000467329.1:p.Glu308=
ENST00000591849.5:c.148G=	ENSP00000465347.1:p.Glu50=
NM_007294.3:c.5449G= , LRG_292t1:c.5449G=	NP_009225.1:p.Glu1817=
NM_007297.3:c.5308G=	NP_009228.2:p.Glu1770=
NM_007298.3:c.2137G=	NP_009229.2:p.Glu713=
NM_007299.3:c.2063G=	NP_009230.2:p.Arg688=
NM_007300.3:c.5512G=	NP_009231.2:p.Glu1838=
NR_027676.1:n.5585G=
NM_007294.4:c.5449G= MANE Select	NP_009225.1:p.Glu1817=
NM_007297.4:c.5308G=	NP_009228.2:p.Glu1770=
NM_007299.4:c.2063G=	NP_009230.2:p.Arg688=
NM_007300.4:c.5512G=	NP_009231.2:p.Glu1838=
NR_027676.2:n.5626G=