Canonical Allele Identifier: CA2260766411

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057089T= , CM000679.2:g.43057089T=	GRCh38
NC_000017.10:g.41209106T= , CM000679.1:g.41209106T=	GRCh37
NC_000017.9:g.38462632T=	NCBI36
NG_005905.2:g.160895A= , LRG_292:g.160895A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5237A=	ENSP00000417241.2:p.Gln1746=
ENST00000470026.6:c.5240A=	ENSP00000419274.2:p.Gln1747=
ENST00000473961.6:c.5114A=	ENSP00000420201.2:p.Gln1705=
ENST00000476777.6:c.5234A=	ENSP00000417554.2:p.Gln1745=
ENST00000477152.6:c.5162A=	ENSP00000419988.2:p.Gln1721=
ENST00000478531.6:c.1928A=	ENSP00000420412.2:p.Gln643=
ENST00000489037.2:c.5162A=	ENSP00000420781.2:p.Gln1721=
ENST00000493919.6:c.1790A=	ENSP00000418819.2:p.Gln597=
ENST00000494123.6:c.5240A=	ENSP00000419103.2:p.Gln1747=
ENST00000497488.2:c.4352A=	ENSP00000418986.2:p.Gln1451=
ENST00000618469.2:c.5240A=	ENSP00000478114.2:p.Gln1747=
ENST00000634433.2:c.5117A=	ENSP00000489431.2:p.Gln1706=
ENST00000644379.2:c.5306A=	ENSP00000496570.2:p.Gln1769=
ENST00000644555.2:c.1790A=	ENSP00000494614.2:p.Gln597=
ENST00000652672.2:c.5099A=	ENSP00000498906.2:p.Gln1700=
ENST00000484087.6:c.1802A=	ENSP00000419481.2:p.Gln601=
ENST00000357654.9:c.5240A= MANE Select	ENSP00000350283.3:p.Gln1747=
ENST00000471181.7:c.5303A=	ENSP00000418960.2:p.Gln1768=
ENST00000644379.1:c.1627A=
ENST00000352993.7:c.1814A=	ENSP00000312236.5:p.Gln605=
ENST00000357654.7:c.5240A=	ENSP00000350283.3:p.Gln1747=
ENST00000461221.5:c.*5023A=	ENSP00000418548.1:n.*5023A=
ENST00000468300.5:c.1928A=	ENSP00000417148.1:p.Gln643=
ENST00000471181.6:c.5303A=	ENSP00000418960.2:p.Gln1768=
ENST00000491747.6:c.1928A=	ENSP00000420705.2:p.Gln643=
ENST00000493795.5:c.5099A=	ENSP00000418775.1:p.Gln1700=
ENST00000586385.5:c.170A=	ENSP00000465818.1:p.Gln57=
ENST00000591534.5:c.713A=	ENSP00000467329.1:p.Gln238=
ENST00000591849.5:c.-98-6899A=	ENSP00000465347.1:n.-98-6899A=
NM_007294.3:c.5240A= , LRG_292t1:c.5240A=	NP_009225.1:p.Gln1747=
NM_007297.3:c.5099A=	NP_009228.2:p.Gln1700=
NM_007298.3:c.1928A=	NP_009229.2:p.Gln643=
NM_007299.3:c.1928A=	NP_009230.2:p.Gln643=
NM_007300.3:c.5303A=	NP_009231.2:p.Gln1768=
NR_027676.1:n.5376A=
NM_007294.4:c.5240A= MANE Select	NP_009225.1:p.Gln1747=
NM_007297.4:c.5099A=	NP_009228.2:p.Gln1700=
NM_007299.4:c.1928A=	NP_009230.2:p.Gln643=
NM_007300.4:c.5303A=	NP_009231.2:p.Gln1768=
NR_027676.2:n.5417A=