Canonical Allele Identifier: CA2260777999

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082467T= , CM000679.2:g.43082467T=	GRCh38
NC_000017.10:g.41234484T= , CM000679.1:g.41234484T=	GRCh37
NC_000017.9:g.38488010T=	NCBI36
NG_005905.2:g.135517A= , LRG_292:g.135517A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4294A=	ENSP00000417241.2:p.Ile1432=
ENST00000470026.6:c.4294A=	ENSP00000419274.2:p.Ile1432=
ENST00000473961.6:c.4168A=	ENSP00000420201.2:p.Ile1390=
ENST00000476777.6:c.4288A=	ENSP00000417554.2:p.Ile1430=
ENST00000477152.6:c.4216A=	ENSP00000419988.2:p.Ile1406=
ENST00000478531.6:c.982A=	ENSP00000420412.2:p.Ile328=
ENST00000489037.2:c.4216A=	ENSP00000420781.2:p.Ile1406=
ENST00000493919.6:c.844A=	ENSP00000418819.2:p.Ile282=
ENST00000494123.6:c.4294A=	ENSP00000419103.2:p.Ile1432=
ENST00000497488.2:c.3406A=	ENSP00000418986.2:p.Ile1136=
ENST00000618469.2:c.4294A=	ENSP00000478114.2:p.Ile1432=
ENST00000634433.2:c.4171A=	ENSP00000489431.2:p.Ile1391=
ENST00000644379.2:c.4294A=	ENSP00000496570.2:p.Ile1432=
ENST00000644555.2:c.844A=	ENSP00000494614.2:p.Ile282=
ENST00000652672.2:c.4153A=	ENSP00000498906.2:p.Ile1385=
ENST00000484087.6:c.859A=	ENSP00000419481.2:p.Ile287=
ENST00000700182.1:c.904A=	ENSP00000514849.1:p.Ile302=
ENST00000357654.9:c.4294A= MANE Select	ENSP00000350283.3:p.Ile1432=
ENST00000471181.7:c.4294A=	ENSP00000418960.2:p.Ile1432=
ENST00000644379.1:c.615A=
ENST00000352993.7:c.868A=	ENSP00000312236.5:p.Ile290=
ENST00000357654.7:c.4294A=	ENSP00000350283.3:p.Ile1432=
ENST00000461221.5:c.*4077A=	ENSP00000418548.1:n.*4077A=
ENST00000461574.1:c.588A=
ENST00000468300.5:c.985A=	ENSP00000417148.1:p.Ile329=
ENST00000471181.6:c.4294A=	ENSP00000418960.2:p.Ile1432=
ENST00000478531.5:c.982A=	ENSP00000420412.1:p.Ile328=
ENST00000484087.5:c.607A=	ENSP00000419481.1:p.Ile203=
ENST00000487825.5:c.610A=	ENSP00000418212.1:p.Ile204=
ENST00000491747.6:c.985A=	ENSP00000420705.2:p.Ile329=
ENST00000493795.5:c.4153A=	ENSP00000418775.1:p.Ile1385=
ENST00000493919.5:c.844A=	ENSP00000418819.1:p.Ile282=
ENST00000586385.5:c.5-18516A=	ENSP00000465818.1:n.5-18516A=
ENST00000591534.5:c.-43-7946A=	ENSP00000467329.1:n.-43-7946A=
ENST00000591849.5:c.-98-32277A=	ENSP00000465347.1:n.-98-32277A=
ENST00000621897.1:n.188A=
NM_007294.3:c.4294A= , LRG_292t1:c.4294A=	NP_009225.1:p.Ile1432=
NM_007297.3:c.4153A=	NP_009228.2:p.Ile1385=
NM_007298.3:c.985A=	NP_009229.2:p.Ile329=
NM_007299.3:c.985A=	NP_009230.2:p.Ile329=
NM_007300.3:c.4294A=	NP_009231.2:p.Ile1432=
NR_027676.1:n.4430A=
NM_007294.4:c.4294A= MANE Select	NP_009225.1:p.Ile1432=
NM_007297.4:c.4153A=	NP_009228.2:p.Ile1385=
NM_007299.4:c.985A=	NP_009230.2:p.Ile329=
NM_007300.4:c.4294A=	NP_009231.2:p.Ile1432=
NR_027676.2:n.4471A=