Canonical Allele Identifier: CA2260774489

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074411A= , CM000679.2:g.43074411A=	GRCh38
NC_000017.10:g.41226428A= , CM000679.1:g.41226428A=	GRCh37
NC_000017.9:g.38479954A=	NCBI36
NG_005905.2:g.143573T= , LRG_292:g.143573T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4592T=	ENSP00000417241.2:p.Val1531=
ENST00000470026.6:c.4595T=	ENSP00000419274.2:p.Val1532=
ENST00000473961.6:c.4469T=	ENSP00000420201.2:p.Val1490=
ENST00000476777.6:c.4589T=	ENSP00000417554.2:p.Val1530=
ENST00000477152.6:c.4517T=	ENSP00000419988.2:p.Val1506=
ENST00000478531.6:c.1283T=	ENSP00000420412.2:p.Val428=
ENST00000489037.2:c.4517T=	ENSP00000420781.2:p.Val1506=
ENST00000493919.6:c.1145T=	ENSP00000418819.2:p.Val382=
ENST00000494123.6:c.4595T=	ENSP00000419103.2:p.Val1532=
ENST00000497488.2:c.3707T=	ENSP00000418986.2:p.Val1236=
ENST00000618469.2:c.4595T=	ENSP00000478114.2:p.Val1532=
ENST00000634433.2:c.4472T=	ENSP00000489431.2:p.Val1491=
ENST00000644379.2:c.4661T=	ENSP00000496570.2:p.Val1554=
ENST00000644555.2:c.1145T=	ENSP00000494614.2:p.Val382=
ENST00000652672.2:c.4454T=	ENSP00000498906.2:p.Val1485=
ENST00000484087.6:c.1157T=	ENSP00000419481.2:p.Val386=
ENST00000700182.1:c.1202T=	ENSP00000514849.1:p.Val401=
ENST00000357654.9:c.4595T= MANE Select	ENSP00000350283.3:p.Val1532=
ENST00000471181.7:c.4658T=	ENSP00000418960.2:p.Val1553=
ENST00000644379.1:c.982T=
ENST00000352993.7:c.1169T=	ENSP00000312236.5:p.Val390=
ENST00000357654.7:c.4595T=	ENSP00000350283.3:p.Val1532=
ENST00000461221.5:c.*4378T=	ENSP00000418548.1:n.*4378T=
ENST00000468300.5:c.1283T=	ENSP00000417148.1:p.Val428=
ENST00000471181.6:c.4658T=	ENSP00000418960.2:p.Val1553=
ENST00000478531.5:c.1283T=	ENSP00000420412.1:p.Val428=
ENST00000484087.5:c.908T=	ENSP00000419481.1:p.Val303=
ENST00000491747.6:c.1283T=	ENSP00000420705.2:p.Val428=
ENST00000493795.5:c.4454T=	ENSP00000418775.1:p.Val1485=
ENST00000493919.5:c.1145T=	ENSP00000418819.1:p.Val382=
ENST00000586385.5:c.5-10460T=	ENSP00000465818.1:n.5-10460T=
ENST00000591534.5:c.68T=	ENSP00000467329.1:p.Val23=
ENST00000591849.5:c.-98-24221T=	ENSP00000465347.1:n.-98-24221T=
NM_007294.3:c.4595T= , LRG_292t1:c.4595T=	NP_009225.1:p.Val1532=
NM_007297.3:c.4454T=	NP_009228.2:p.Val1485=
NM_007298.3:c.1283T=	NP_009229.2:p.Val428=
NM_007299.3:c.1283T=	NP_009230.2:p.Val428=
NM_007300.3:c.4658T=	NP_009231.2:p.Val1553=
NR_027676.1:n.4731T=
NM_007294.4:c.4595T= MANE Select	NP_009225.1:p.Val1532=
NM_007297.4:c.4454T=	NP_009228.2:p.Val1485=
NM_007299.4:c.1283T=	NP_009230.2:p.Val428=
NM_007300.4:c.4658T=	NP_009231.2:p.Val1553=
NR_027676.2:n.4772T=