Canonical Allele Identifier: CA2260775452

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076501G= , CM000679.2:g.43076501G=	GRCh38
NC_000017.10:g.41228518G= , CM000679.1:g.41228518G=	GRCh37
NC_000017.9:g.38482044G=	NCBI36
NG_005905.2:g.141483C= , LRG_292:g.141483C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4468C=	ENSP00000417241.2:p.Pro1490=
ENST00000470026.6:c.4471C=	ENSP00000419274.2:p.Pro1491=
ENST00000473961.6:c.4345C=	ENSP00000420201.2:p.Pro1449=
ENST00000476777.6:c.4465C=	ENSP00000417554.2:p.Pro1489=
ENST00000477152.6:c.4393C=	ENSP00000419988.2:p.Pro1465=
ENST00000478531.6:c.1159C=	ENSP00000420412.2:p.Pro387=
ENST00000489037.2:c.4393C=	ENSP00000420781.2:p.Pro1465=
ENST00000493919.6:c.1021C=	ENSP00000418819.2:p.Pro341=
ENST00000494123.6:c.4471C=	ENSP00000419103.2:p.Pro1491=
ENST00000497488.2:c.3583C=	ENSP00000418986.2:p.Pro1195=
ENST00000618469.2:c.4471C=	ENSP00000478114.2:p.Pro1491=
ENST00000634433.2:c.4348C=	ENSP00000489431.2:p.Pro1450=
ENST00000644379.2:c.4537C=	ENSP00000496570.2:p.Pro1513=
ENST00000644555.2:c.1021C=	ENSP00000494614.2:p.Pro341=
ENST00000652672.2:c.4330C=	ENSP00000498906.2:p.Pro1444=
ENST00000484087.6:c.1033C=	ENSP00000419481.2:p.Pro345=
ENST00000700182.1:c.1078C=	ENSP00000514849.1:p.Pro360=
ENST00000357654.9:c.4471C= MANE Select	ENSP00000350283.3:p.Pro1491=
ENST00000471181.7:c.4534C=	ENSP00000418960.2:p.Pro1512=
ENST00000644379.1:c.858C=
ENST00000352993.7:c.1045C=	ENSP00000312236.5:p.Pro349=
ENST00000357654.7:c.4471C=	ENSP00000350283.3:p.Pro1491=
ENST00000461221.5:c.*4254C=	ENSP00000418548.1:n.*4254C=
ENST00000468300.5:c.1159C=	ENSP00000417148.1:p.Pro387=
ENST00000471181.6:c.4534C=	ENSP00000418960.2:p.Pro1512=
ENST00000478531.5:c.1159C=	ENSP00000420412.1:p.Pro387=
ENST00000484087.5:c.784C=	ENSP00000419481.1:p.Pro262=
ENST00000487825.5:c.787C=	ENSP00000418212.1:p.Pro263=
ENST00000491747.6:c.1159C=	ENSP00000420705.2:p.Pro387=
ENST00000493795.5:c.4330C=	ENSP00000418775.1:p.Pro1444=
ENST00000493919.5:c.1021C=	ENSP00000418819.1:p.Pro341=
ENST00000586385.5:c.5-12550C=	ENSP00000465818.1:n.5-12550C=
ENST00000591534.5:c.-43-1980C=	ENSP00000467329.1:n.-43-1980C=
ENST00000591849.5:c.-98-26311C=	ENSP00000465347.1:n.-98-26311C=
ENST00000621897.1:n.362C=
NM_007294.3:c.4471C= , LRG_292t1:c.4471C=	NP_009225.1:p.Pro1491=
NM_007297.3:c.4330C=	NP_009228.2:p.Pro1444=
NM_007298.3:c.1159C=	NP_009229.2:p.Pro387=
NM_007299.3:c.1159C=	NP_009230.2:p.Pro387=
NM_007300.3:c.4534C=	NP_009231.2:p.Pro1512=
NR_027676.1:n.4607C=
NM_007294.4:c.4471C= MANE Select	NP_009225.1:p.Pro1491=
NM_007297.4:c.4330C=	NP_009228.2:p.Pro1444=
NM_007299.4:c.1159C=	NP_009230.2:p.Pro387=
NM_007300.4:c.4534C=	NP_009231.2:p.Pro1512=
NR_027676.2:n.4648C=