Canonical Allele Identifier: CA2260772854

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071030C= , CM000679.2:g.43071030C=	GRCh38
NC_000017.10:g.41223047C= , CM000679.1:g.41223047C=	GRCh37
NC_000017.9:g.38476573C=	NCBI36
NG_005905.2:g.146954G= , LRG_292:g.146954G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4881G=	ENSP00000417241.2:p.Met1627=
ENST00000470026.6:c.4884G=	ENSP00000419274.2:p.Met1628=
ENST00000473961.6:c.4758G=	ENSP00000420201.2:p.Met1586=
ENST00000476777.6:c.4878G=	ENSP00000417554.2:p.Met1626=
ENST00000477152.6:c.4806G=	ENSP00000419988.2:p.Met1602=
ENST00000478531.6:c.1572G=	ENSP00000420412.2:p.Met524=
ENST00000489037.2:c.4806G=	ENSP00000420781.2:p.Met1602=
ENST00000493919.6:c.1434G=	ENSP00000418819.2:p.Met478=
ENST00000494123.6:c.4884G=	ENSP00000419103.2:p.Met1628=
ENST00000497488.2:c.3996G=	ENSP00000418986.2:p.Met1332=
ENST00000618469.2:c.4884G=	ENSP00000478114.2:p.Met1628=
ENST00000634433.2:c.4761G=	ENSP00000489431.2:p.Met1587=
ENST00000644379.2:c.4950G=	ENSP00000496570.2:p.Met1650=
ENST00000644555.2:c.1434G=	ENSP00000494614.2:p.Met478=
ENST00000652672.2:c.4743G=	ENSP00000498906.2:p.Met1581=
ENST00000484087.6:c.1446G=	ENSP00000419481.2:p.Met482=
ENST00000700182.1:c.1491G=	ENSP00000514849.1:p.Met497=
ENST00000357654.9:c.4884G= MANE Select	ENSP00000350283.3:p.Met1628=
ENST00000471181.7:c.4947G=	ENSP00000418960.2:p.Met1649=
ENST00000644379.1:c.1271G=
ENST00000352993.7:c.1458G=	ENSP00000312236.5:p.Met486=
ENST00000357654.7:c.4884G=	ENSP00000350283.3:p.Met1628=
ENST00000461221.5:c.*4667G=	ENSP00000418548.1:n.*4667G=
ENST00000468300.5:c.1572G=	ENSP00000417148.1:p.Met524=
ENST00000471181.6:c.4947G=	ENSP00000418960.2:p.Met1649=
ENST00000472490.1:n.37G=
ENST00000478531.5:c.1572G=	ENSP00000420412.1:p.Met524=
ENST00000484087.5:c.1197G=	ENSP00000419481.1:p.Met399=
ENST00000491747.6:c.1572G=	ENSP00000420705.2:p.Met524=
ENST00000493795.5:c.4743G=	ENSP00000418775.1:p.Met1581=
ENST00000493919.5:c.1434G=	ENSP00000418819.1:p.Met478=
ENST00000586385.5:c.5-7079G=	ENSP00000465818.1:n.5-7079G=
ENST00000591534.5:c.357G=	ENSP00000467329.1:p.Met119=
ENST00000591849.5:c.-98-20840G=	ENSP00000465347.1:n.-98-20840G=
NM_007294.3:c.4884G= , LRG_292t1:c.4884G=	NP_009225.1:p.Met1628=
NM_007297.3:c.4743G=	NP_009228.2:p.Met1581=
NM_007298.3:c.1572G=	NP_009229.2:p.Met524=
NM_007299.3:c.1572G=	NP_009230.2:p.Met524=
NM_007300.3:c.4947G=	NP_009231.2:p.Met1649=
NR_027676.1:n.5020G=
NM_007294.4:c.4884G= MANE Select	NP_009225.1:p.Met1628=
NM_007297.4:c.4743G=	NP_009228.2:p.Met1581=
NM_007299.4:c.1572G=	NP_009230.2:p.Met524=
NM_007300.4:c.4947G=	NP_009231.2:p.Met1649=
NR_027676.2:n.5061G=