Canonical Allele Identifier: CA2260775555

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076610T= , CM000679.2:g.43076610T=	GRCh38
NC_000017.10:g.41228627T= , CM000679.1:g.41228627T=	GRCh37
NC_000017.9:g.38482153T=	NCBI36
NG_005905.2:g.141374A= , LRG_292:g.141374A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4359A=	ENSP00000417241.2:p.Val1453=
ENST00000470026.6:c.4362A=	ENSP00000419274.2:p.Val1454=
ENST00000473961.6:c.4236A=	ENSP00000420201.2:p.Val1412=
ENST00000476777.6:c.4356A=	ENSP00000417554.2:p.Val1452=
ENST00000477152.6:c.4284A=	ENSP00000419988.2:p.Val1428=
ENST00000478531.6:c.1050A=	ENSP00000420412.2:p.Val350=
ENST00000489037.2:c.4284A=	ENSP00000420781.2:p.Val1428=
ENST00000493919.6:c.912A=	ENSP00000418819.2:p.Val304=
ENST00000494123.6:c.4362A=	ENSP00000419103.2:p.Val1454=
ENST00000497488.2:c.3474A=	ENSP00000418986.2:p.Val1158=
ENST00000618469.2:c.4362A=	ENSP00000478114.2:p.Val1454=
ENST00000634433.2:c.4239A=	ENSP00000489431.2:p.Val1413=
ENST00000644379.2:c.4428A=	ENSP00000496570.2:p.Val1476=
ENST00000644555.2:c.912A=	ENSP00000494614.2:p.Val304=
ENST00000652672.2:c.4221A=	ENSP00000498906.2:p.Val1407=
ENST00000484087.6:c.924A=	ENSP00000419481.2:p.Val308=
ENST00000700182.1:c.969A=	ENSP00000514849.1:p.Val323=
ENST00000357654.9:c.4362A= MANE Select	ENSP00000350283.3:p.Val1454=
ENST00000471181.7:c.4425A=	ENSP00000418960.2:p.Val1475=
ENST00000644379.1:c.749A=
ENST00000352993.7:c.936A=	ENSP00000312236.5:p.Val312=
ENST00000357654.7:c.4362A=	ENSP00000350283.3:p.Val1454=
ENST00000461221.5:c.*4145A=	ENSP00000418548.1:n.*4145A=
ENST00000461574.1:c.653A=
ENST00000468300.5:c.1050A=	ENSP00000417148.1:p.Val350=
ENST00000471181.6:c.4425A=	ENSP00000418960.2:p.Val1475=
ENST00000478531.5:c.1050A=	ENSP00000420412.1:p.Val350=
ENST00000484087.5:c.675A=	ENSP00000419481.1:p.Val225=
ENST00000487825.5:c.678A=	ENSP00000418212.1:p.Val226=
ENST00000491747.6:c.1050A=	ENSP00000420705.2:p.Val350=
ENST00000493795.5:c.4221A=	ENSP00000418775.1:p.Val1407=
ENST00000493919.5:c.912A=	ENSP00000418819.1:p.Val304=
ENST00000586385.5:c.5-12659A=	ENSP00000465818.1:n.5-12659A=
ENST00000591534.5:c.-43-2089A=	ENSP00000467329.1:n.-43-2089A=
ENST00000591849.5:c.-98-26420A=	ENSP00000465347.1:n.-98-26420A=
ENST00000621897.1:n.253A=
NM_007294.3:c.4362A= , LRG_292t1:c.4362A=	NP_009225.1:p.Val1454=
NM_007297.3:c.4221A=	NP_009228.2:p.Val1407=
NM_007298.3:c.1050A=	NP_009229.2:p.Val350=
NM_007299.3:c.1050A=	NP_009230.2:p.Val350=
NM_007300.3:c.4425A=	NP_009231.2:p.Val1475=
NR_027676.1:n.4498A=
NM_007294.4:c.4362A= MANE Select	NP_009225.1:p.Val1454=
NM_007297.4:c.4221A=	NP_009228.2:p.Val1407=
NM_007299.4:c.1050A=	NP_009230.2:p.Val350=
NM_007300.4:c.4425A=	NP_009231.2:p.Val1475=
NR_027676.2:n.4539A=