Canonical Allele Identifier: CA2260763698

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43051071A= , CM000679.2:g.43051071A=	GRCh38
NC_000017.10:g.41203088A= , CM000679.1:g.41203088A=	GRCh37
NC_000017.9:g.38456614A=	NCBI36
NG_005905.2:g.166913T= , LRG_292:g.166913T=

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5324T= MANE Select	NP_009225.1:p.Met1775=
ENST00000357654.9:c.5324T= MANE Select	ENSP00000350283.3:p.Met1775=
NM_007294.3:c.5324T= , LRG_292t1:c.5324T=	NP_009225.1:p.Met1775=
NM_007297.3:c.5183T=	NP_009228.2:p.Met1728=
NM_007297.4:c.5183T=	NP_009228.2:p.Met1728=
NM_007298.3:c.2012T=	NP_009229.2:p.Met671=
NM_007299.3:c.2012T=	NP_009230.2:p.Met671=
NM_007299.4:c.2012T=	NP_009230.2:p.Met671=
NM_007300.3:c.5387T=	NP_009231.2:p.Met1796=
NM_007300.4:c.5387T=	NP_009231.2:p.Met1796=
NR_027676.1:n.5460T=
NR_027676.2:n.5501T=
ENST00000352993.7:c.1898T=	ENSP00000312236.5:p.Met633=
ENST00000357654.7:c.5324T=	ENSP00000350283.3:p.Met1775=
ENST00000461221.5:c.*5107T=	ENSP00000418548.1:n.*5107T=
ENST00000461574.2:c.5321T=	ENSP00000417241.2:p.Met1774=
ENST00000468300.5:c.2012T=	ENSP00000417148.1:p.Met671=
ENST00000470026.6:c.5324T=	ENSP00000419274.2:p.Met1775=
ENST00000471181.6:c.5387T=	ENSP00000418960.2:p.Met1796=
ENST00000471181.7:c.5387T=	ENSP00000418960.2:p.Met1796=
ENST00000473961.6:c.5198T=	ENSP00000420201.2:p.Met1733=
ENST00000476777.6:c.5318T=	ENSP00000417554.2:p.Met1773=
ENST00000477152.6:c.5246T=	ENSP00000419988.2:p.Met1749=
ENST00000478531.6:c.2012T=	ENSP00000420412.2:p.Met671=
ENST00000484087.6:c.1886T=	ENSP00000419481.2:p.Met629=
ENST00000489037.2:c.5246T=	ENSP00000420781.2:p.Met1749=
ENST00000491747.6:c.2012T=	ENSP00000420705.2:p.Met671=
ENST00000493795.5:c.5183T=	ENSP00000418775.1:p.Met1728=
ENST00000493919.6:c.1874T=	ENSP00000418819.2:p.Met625=
ENST00000494123.6:c.5324T=	ENSP00000419103.2:p.Met1775=
ENST00000497488.2:c.4436T=	ENSP00000418986.2:p.Met1479=
ENST00000586385.5:c.254T=	ENSP00000465818.1:p.Met85=
ENST00000591534.5:c.797T=	ENSP00000467329.1:p.Met266=
ENST00000591849.5:c.-98-881T=	ENSP00000465347.1:n.-98-881T=
ENST00000618469.2:c.5324T=	ENSP00000478114.2:p.Met1775=
ENST00000634433.2:c.5201T=	ENSP00000489431.2:p.Met1734=
ENST00000644379.1:c.1711T=
ENST00000644379.2:c.5390T=	ENSP00000496570.2:p.Met1797=
ENST00000644555.2:c.1874T=	ENSP00000494614.2:p.Met625=
ENST00000652672.2:c.5183T=	ENSP00000498906.2:p.Met1728=