Canonical Allele Identifier: CA2260777978

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082440C= , CM000679.2:g.43082440C=	GRCh38
NC_000017.10:g.41234457C= , CM000679.1:g.41234457C=	GRCh37
NC_000017.9:g.38487983C=	NCBI36
NG_005905.2:g.135544G= , LRG_292:g.135544G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4321G=	ENSP00000417241.2:p.Asp1441=
ENST00000470026.6:c.4321G=	ENSP00000419274.2:p.Asp1441=
ENST00000473961.6:c.4195G=	ENSP00000420201.2:p.Asp1399=
ENST00000476777.6:c.4315G=	ENSP00000417554.2:p.Asp1439=
ENST00000477152.6:c.4243G=	ENSP00000419988.2:p.Asp1415=
ENST00000478531.6:c.1009G=	ENSP00000420412.2:p.Asp337=
ENST00000489037.2:c.4243G=	ENSP00000420781.2:p.Asp1415=
ENST00000493919.6:c.871G=	ENSP00000418819.2:p.Asp291=
ENST00000494123.6:c.4321G=	ENSP00000419103.2:p.Asp1441=
ENST00000497488.2:c.3433G=	ENSP00000418986.2:p.Asp1145=
ENST00000618469.2:c.4321G=	ENSP00000478114.2:p.Asp1441=
ENST00000634433.2:c.4198G=	ENSP00000489431.2:p.Asp1400=
ENST00000644379.2:c.4321G=	ENSP00000496570.2:p.Asp1441=
ENST00000644555.2:c.871G=	ENSP00000494614.2:p.Asp291=
ENST00000652672.2:c.4180G=	ENSP00000498906.2:p.Asp1394=
ENST00000484087.6:c.886G=	ENSP00000419481.2:p.Asp296=
ENST00000700182.1:c.931G=	ENSP00000514849.1:p.Asp311=
ENST00000357654.9:c.4321G= MANE Select	ENSP00000350283.3:p.Asp1441=
ENST00000471181.7:c.4321G=	ENSP00000418960.2:p.Asp1441=
ENST00000644379.1:c.642G=
ENST00000352993.7:c.895G=	ENSP00000312236.5:p.Asp299=
ENST00000357654.7:c.4321G=	ENSP00000350283.3:p.Asp1441=
ENST00000461221.5:c.*4104G=	ENSP00000418548.1:n.*4104G=
ENST00000461574.1:c.615G=
ENST00000468300.5:c.1012G=	ENSP00000417148.1:p.Asp338=
ENST00000471181.6:c.4321G=	ENSP00000418960.2:p.Asp1441=
ENST00000478531.5:c.1009G=	ENSP00000420412.1:p.Asp337=
ENST00000484087.5:c.634G=	ENSP00000419481.1:p.Asp212=
ENST00000487825.5:c.637G=	ENSP00000418212.1:p.Asp213=
ENST00000491747.6:c.1012G=	ENSP00000420705.2:p.Asp338=
ENST00000493795.5:c.4180G=	ENSP00000418775.1:p.Asp1394=
ENST00000493919.5:c.871G=	ENSP00000418819.1:p.Asp291=
ENST00000586385.5:c.5-18489G=	ENSP00000465818.1:n.5-18489G=
ENST00000591534.5:c.-43-7919G=	ENSP00000467329.1:n.-43-7919G=
ENST00000591849.5:c.-98-32250G=	ENSP00000465347.1:n.-98-32250G=
ENST00000621897.1:n.215G=
NM_007294.3:c.4321G= , LRG_292t1:c.4321G=	NP_009225.1:p.Asp1441=
NM_007297.3:c.4180G=	NP_009228.2:p.Asp1394=
NM_007298.3:c.1012G=	NP_009229.2:p.Asp338=
NM_007299.3:c.1012G=	NP_009230.2:p.Asp338=
NM_007300.3:c.4321G=	NP_009231.2:p.Asp1441=
NR_027676.1:n.4457G=
NM_007294.4:c.4321G= MANE Select	NP_009225.1:p.Asp1441=
NM_007297.4:c.4180G=	NP_009228.2:p.Asp1394=
NM_007299.4:c.1012G=	NP_009230.2:p.Asp338=
NM_007300.4:c.4321G=	NP_009231.2:p.Asp1441=
NR_027676.2:n.4498G=