Canonical Allele Identifier: CA2260771382

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067664T= , CM000679.2:g.43067664T=	GRCh38
NC_000017.10:g.41219681T= , CM000679.1:g.41219681T=	GRCh37
NC_000017.9:g.38473207T=	NCBI36
NG_005905.2:g.150320A= , LRG_292:g.150320A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5015A=	ENSP00000417241.2:p.His1672=
ENST00000470026.6:c.5018A=	ENSP00000419274.2:p.His1673=
ENST00000473961.6:c.4892A=	ENSP00000420201.2:p.His1631=
ENST00000476777.6:c.5012A=	ENSP00000417554.2:p.His1671=
ENST00000477152.6:c.4940A=	ENSP00000419988.2:p.His1647=
ENST00000478531.6:c.1706A=	ENSP00000420412.2:p.His569=
ENST00000489037.2:c.4940A=	ENSP00000420781.2:p.His1647=
ENST00000493919.6:c.1568A=	ENSP00000418819.2:p.His523=
ENST00000494123.6:c.5018A=	ENSP00000419103.2:p.His1673=
ENST00000497488.2:c.4130A=	ENSP00000418986.2:p.His1377=
ENST00000618469.2:c.5018A=	ENSP00000478114.2:p.His1673=
ENST00000634433.2:c.4895A=	ENSP00000489431.2:p.His1632=
ENST00000644379.2:c.5084A=	ENSP00000496570.2:p.His1695=
ENST00000644555.2:c.1568A=	ENSP00000494614.2:p.His523=
ENST00000652672.2:c.4877A=	ENSP00000498906.2:p.His1626=
ENST00000484087.6:c.1580A=	ENSP00000419481.2:p.His527=
ENST00000357654.9:c.5018A= MANE Select	ENSP00000350283.3:p.His1673=
ENST00000471181.7:c.5081A=	ENSP00000418960.2:p.His1694=
ENST00000644379.1:c.1405A=
ENST00000352993.7:c.1592A=	ENSP00000312236.5:p.His531=
ENST00000357654.7:c.5018A=	ENSP00000350283.3:p.His1673=
ENST00000461221.5:c.*4801A=	ENSP00000418548.1:n.*4801A=
ENST00000468300.5:c.1706A=	ENSP00000417148.1:p.His569=
ENST00000471181.6:c.5081A=	ENSP00000418960.2:p.His1694=
ENST00000472490.1:n.171A=
ENST00000478531.5:c.1706A=	ENSP00000420412.1:p.His569=
ENST00000484087.5:c.1331A=	ENSP00000419481.1:p.His444=
ENST00000491747.6:c.1706A=	ENSP00000420705.2:p.His569=
ENST00000493795.5:c.4877A=	ENSP00000418775.1:p.His1626=
ENST00000493919.5:c.1568A=	ENSP00000418819.1:p.His523=
ENST00000586385.5:c.5-3713A=	ENSP00000465818.1:n.5-3713A=
ENST00000591534.5:c.491A=	ENSP00000467329.1:p.His164=
ENST00000591849.5:c.-98-17474A=	ENSP00000465347.1:n.-98-17474A=
NM_007294.3:c.5018A= , LRG_292t1:c.5018A=	NP_009225.1:p.His1673=
NM_007297.3:c.4877A=	NP_009228.2:p.His1626=
NM_007298.3:c.1706A=	NP_009229.2:p.His569=
NM_007299.3:c.1706A=	NP_009230.2:p.His569=
NM_007300.3:c.5081A=	NP_009231.2:p.His1694=
NR_027676.1:n.5154A=
NM_007294.4:c.5018A= MANE Select	NP_009225.1:p.His1673=
NM_007297.4:c.4877A=	NP_009228.2:p.His1626=
NM_007299.4:c.1706A=	NP_009230.2:p.His569=
NM_007300.4:c.5081A=	NP_009231.2:p.His1694=
NR_027676.2:n.5195A=