Canonical Allele Identifier: CA2260771378

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067662T= , CM000679.2:g.43067662T=	GRCh38
NC_000017.10:g.41219679T= , CM000679.1:g.41219679T=	GRCh37
NC_000017.9:g.38473205T=	NCBI36
NG_005905.2:g.150322A= , LRG_292:g.150322A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5017A=	ENSP00000417241.2:p.Ile1673=
ENST00000470026.6:c.5020A=	ENSP00000419274.2:p.Ile1674=
ENST00000473961.6:c.4894A=	ENSP00000420201.2:p.Ile1632=
ENST00000476777.6:c.5014A=	ENSP00000417554.2:p.Ile1672=
ENST00000477152.6:c.4942A=	ENSP00000419988.2:p.Ile1648=
ENST00000478531.6:c.1708A=	ENSP00000420412.2:p.Ile570=
ENST00000489037.2:c.4942A=	ENSP00000420781.2:p.Ile1648=
ENST00000493919.6:c.1570A=	ENSP00000418819.2:p.Ile524=
ENST00000494123.6:c.5020A=	ENSP00000419103.2:p.Ile1674=
ENST00000497488.2:c.4132A=	ENSP00000418986.2:p.Ile1378=
ENST00000618469.2:c.5020A=	ENSP00000478114.2:p.Ile1674=
ENST00000634433.2:c.4897A=	ENSP00000489431.2:p.Ile1633=
ENST00000644379.2:c.5086A=	ENSP00000496570.2:p.Ile1696=
ENST00000644555.2:c.1570A=	ENSP00000494614.2:p.Ile524=
ENST00000652672.2:c.4879A=	ENSP00000498906.2:p.Ile1627=
ENST00000484087.6:c.1582A=	ENSP00000419481.2:p.Ile528=
ENST00000357654.9:c.5020A= MANE Select	ENSP00000350283.3:p.Ile1674=
ENST00000471181.7:c.5083A=	ENSP00000418960.2:p.Ile1695=
ENST00000644379.1:c.1407A=
ENST00000352993.7:c.1594A=	ENSP00000312236.5:p.Ile532=
ENST00000357654.7:c.5020A=	ENSP00000350283.3:p.Ile1674=
ENST00000461221.5:c.*4803A=	ENSP00000418548.1:n.*4803A=
ENST00000468300.5:c.1708A=	ENSP00000417148.1:p.Ile570=
ENST00000471181.6:c.5083A=	ENSP00000418960.2:p.Ile1695=
ENST00000472490.1:n.173A=
ENST00000478531.5:c.1708A=	ENSP00000420412.1:p.Ile570=
ENST00000484087.5:c.1333A=	ENSP00000419481.1:p.Ile445=
ENST00000491747.6:c.1708A=	ENSP00000420705.2:p.Ile570=
ENST00000493795.5:c.4879A=	ENSP00000418775.1:p.Ile1627=
ENST00000493919.5:c.1570A=	ENSP00000418819.1:p.Ile524=
ENST00000586385.5:c.5-3711A=	ENSP00000465818.1:n.5-3711A=
ENST00000591534.5:c.493A=	ENSP00000467329.1:p.Ile165=
ENST00000591849.5:c.-98-17472A=	ENSP00000465347.1:n.-98-17472A=
NM_007294.3:c.5020A= , LRG_292t1:c.5020A=	NP_009225.1:p.Ile1674=
NM_007297.3:c.4879A=	NP_009228.2:p.Ile1627=
NM_007298.3:c.1708A=	NP_009229.2:p.Ile570=
NM_007299.3:c.1708A=	NP_009230.2:p.Ile570=
NM_007300.3:c.5083A=	NP_009231.2:p.Ile1695=
NR_027676.1:n.5156A=
NM_007294.4:c.5020A= MANE Select	NP_009225.1:p.Ile1674=
NM_007297.4:c.4879A=	NP_009228.2:p.Ile1627=
NM_007299.4:c.1708A=	NP_009230.2:p.Ile570=
NM_007300.4:c.5083A=	NP_009231.2:p.Ile1695=
NR_027676.2:n.5197A=