Canonical Allele Identifier: CA2260762002

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047672T= , CM000679.2:g.43047672T=	GRCh38
NC_000017.10:g.41199689T= , CM000679.1:g.41199689T=	GRCh37
NC_000017.9:g.38453215T=	NCBI36
NG_005905.2:g.170312A= , LRG_292:g.170312A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5435A=	ENSP00000417241.2:p.Asp1812=
ENST00000470026.6:c.5438A=	ENSP00000419274.2:p.Asp1813=
ENST00000473961.6:c.5312A=	ENSP00000420201.2:p.Asp1771=
ENST00000476777.6:c.5432A=	ENSP00000417554.2:p.Asp1811=
ENST00000477152.6:c.5360A=	ENSP00000419988.2:p.Asp1787=
ENST00000478531.6:c.2126A=	ENSP00000420412.2:p.Asp709=
ENST00000489037.2:c.5360A=	ENSP00000420781.2:p.Asp1787=
ENST00000493919.6:c.1988A=	ENSP00000418819.2:p.Asp663=
ENST00000494123.6:c.5438A=	ENSP00000419103.2:p.Asp1813=
ENST00000497488.2:c.4550A=	ENSP00000418986.2:p.Asp1517=
ENST00000618469.2:c.5438A=	ENSP00000478114.2:p.Asp1813=
ENST00000634433.2:c.5315A=	ENSP00000489431.2:p.Asp1772=
ENST00000644379.2:c.5504A=	ENSP00000496570.2:p.Asp1835=
ENST00000644555.2:c.1988A=	ENSP00000494614.2:p.Asp663=
ENST00000652672.2:c.5297A=	ENSP00000498906.2:p.Asp1766=
ENST00000484087.6:c.2000A=	ENSP00000419481.2:p.Asp667=
ENST00000700081.1:n.1321A=
ENST00000700082.1:n.802A=
ENST00000357654.9:c.5438A= MANE Select	ENSP00000350283.3:p.Asp1813=
ENST00000471181.7:c.5501A=	ENSP00000418960.2:p.Asp1834=
ENST00000644379.1:c.1825A=
ENST00000352993.7:c.2012A=	ENSP00000312236.5:p.Asp671=
ENST00000357654.7:c.5438A=	ENSP00000350283.3:p.Asp1813=
ENST00000461221.5:c.*5221A=	ENSP00000418548.1:n.*5221A=
ENST00000468300.5:c.2052A=	ENSP00000417148.1:p.Arg684=
ENST00000471181.6:c.5501A=	ENSP00000418960.2:p.Asp1834=
ENST00000491747.6:c.2126A=	ENSP00000420705.2:p.Asp709=
ENST00000493795.5:c.5297A=	ENSP00000418775.1:p.Asp1766=
ENST00000586385.5:c.368A=	ENSP00000465818.1:p.Asp123=
ENST00000591534.5:c.911A=	ENSP00000467329.1:p.Asp304=
ENST00000591849.5:c.137A=	ENSP00000465347.1:p.Asp46=
NM_007294.3:c.5438A= , LRG_292t1:c.5438A=	NP_009225.1:p.Asp1813=
NM_007297.3:c.5297A=	NP_009228.2:p.Asp1766=
NM_007298.3:c.2126A=	NP_009229.2:p.Asp709=
NM_007299.3:c.2052A=	NP_009230.2:p.Arg684=
NM_007300.3:c.5501A=	NP_009231.2:p.Asp1834=
NR_027676.1:n.5574A=
NM_007294.4:c.5438A= MANE Select	NP_009225.1:p.Asp1813=
NM_007297.4:c.5297A=	NP_009228.2:p.Asp1766=
NM_007299.4:c.2052A=	NP_009230.2:p.Arg684=
NM_007300.4:c.5501A=	NP_009231.2:p.Asp1834=
NR_027676.2:n.5615A=