Canonical Allele Identifier: CA2260775510

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076566G= , CM000679.2:g.43076566G=	GRCh38
NC_000017.10:g.41228583G= , CM000679.1:g.41228583G=	GRCh37
NC_000017.9:g.38482109G=	NCBI36
NG_005905.2:g.141418C= , LRG_292:g.141418C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4403C=	ENSP00000417241.2:p.Pro1468=
ENST00000470026.6:c.4406C=	ENSP00000419274.2:p.Pro1469=
ENST00000473961.6:c.4280C=	ENSP00000420201.2:p.Pro1427=
ENST00000476777.6:c.4400C=	ENSP00000417554.2:p.Pro1467=
ENST00000477152.6:c.4328C=	ENSP00000419988.2:p.Pro1443=
ENST00000478531.6:c.1094C=	ENSP00000420412.2:p.Pro365=
ENST00000489037.2:c.4328C=	ENSP00000420781.2:p.Pro1443=
ENST00000493919.6:c.956C=	ENSP00000418819.2:p.Pro319=
ENST00000494123.6:c.4406C=	ENSP00000419103.2:p.Pro1469=
ENST00000497488.2:c.3518C=	ENSP00000418986.2:p.Pro1173=
ENST00000618469.2:c.4406C=	ENSP00000478114.2:p.Pro1469=
ENST00000634433.2:c.4283C=	ENSP00000489431.2:p.Pro1428=
ENST00000644379.2:c.4472C=	ENSP00000496570.2:p.Pro1491=
ENST00000644555.2:c.956C=	ENSP00000494614.2:p.Pro319=
ENST00000652672.2:c.4265C=	ENSP00000498906.2:p.Pro1422=
ENST00000484087.6:c.968C=	ENSP00000419481.2:p.Pro323=
ENST00000700182.1:c.1013C=	ENSP00000514849.1:p.Pro338=
ENST00000357654.9:c.4406C= MANE Select	ENSP00000350283.3:p.Pro1469=
ENST00000471181.7:c.4469C=	ENSP00000418960.2:p.Pro1490=
ENST00000644379.1:c.793C=
ENST00000352993.7:c.980C=	ENSP00000312236.5:p.Pro327=
ENST00000357654.7:c.4406C=	ENSP00000350283.3:p.Pro1469=
ENST00000461221.5:c.*4189C=	ENSP00000418548.1:n.*4189C=
ENST00000461574.1:c.697C=
ENST00000468300.5:c.1094C=	ENSP00000417148.1:p.Pro365=
ENST00000471181.6:c.4469C=	ENSP00000418960.2:p.Pro1490=
ENST00000478531.5:c.1094C=	ENSP00000420412.1:p.Pro365=
ENST00000484087.5:c.719C=	ENSP00000419481.1:p.Pro240=
ENST00000487825.5:c.722C=	ENSP00000418212.1:p.Pro241=
ENST00000491747.6:c.1094C=	ENSP00000420705.2:p.Pro365=
ENST00000493795.5:c.4265C=	ENSP00000418775.1:p.Pro1422=
ENST00000493919.5:c.956C=	ENSP00000418819.1:p.Pro319=
ENST00000586385.5:c.5-12615C=	ENSP00000465818.1:n.5-12615C=
ENST00000591534.5:c.-43-2045C=	ENSP00000467329.1:n.-43-2045C=
ENST00000591849.5:c.-98-26376C=	ENSP00000465347.1:n.-98-26376C=
ENST00000621897.1:n.297C=
NM_007294.3:c.4406C= , LRG_292t1:c.4406C=	NP_009225.1:p.Pro1469=
NM_007297.3:c.4265C=	NP_009228.2:p.Pro1422=
NM_007298.3:c.1094C=	NP_009229.2:p.Pro365=
NM_007299.3:c.1094C=	NP_009230.2:p.Pro365=
NM_007300.3:c.4469C=	NP_009231.2:p.Pro1490=
NR_027676.1:n.4542C=
NM_007294.4:c.4406C= MANE Select	NP_009225.1:p.Pro1469=
NM_007297.4:c.4265C=	NP_009228.2:p.Pro1422=
NM_007299.4:c.1094C=	NP_009230.2:p.Pro365=
NM_007300.4:c.4469C=	NP_009231.2:p.Pro1490=
NR_027676.2:n.4583C=