Canonical Allele Identifier: CA2260769530

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063907T= , CM000679.2:g.43063907T=	GRCh38
NC_000017.10:g.41215924T= , CM000679.1:g.41215924T=	GRCh37
NC_000017.9:g.38469450T=	NCBI36
NG_005905.2:g.154077A= , LRG_292:g.154077A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5116A=	ENSP00000417241.2:p.Ile1706=
ENST00000470026.6:c.5119A=	ENSP00000419274.2:p.Ile1707=
ENST00000473961.6:c.4993A=	ENSP00000420201.2:p.Ile1665=
ENST00000476777.6:c.5113A=	ENSP00000417554.2:p.Ile1705=
ENST00000477152.6:c.5041A=	ENSP00000419988.2:p.Ile1681=
ENST00000478531.6:c.1807A=	ENSP00000420412.2:p.Ile603=
ENST00000489037.2:c.5041A=	ENSP00000420781.2:p.Ile1681=
ENST00000493919.6:c.1669A=	ENSP00000418819.2:p.Ile557=
ENST00000494123.6:c.5119A=	ENSP00000419103.2:p.Ile1707=
ENST00000497488.2:c.4231A=	ENSP00000418986.2:p.Ile1411=
ENST00000618469.2:c.5119A=	ENSP00000478114.2:p.Ile1707=
ENST00000634433.2:c.4996A=	ENSP00000489431.2:p.Ile1666=
ENST00000644379.2:c.5185A=	ENSP00000496570.2:p.Ile1729=
ENST00000644555.2:c.1669A=	ENSP00000494614.2:p.Ile557=
ENST00000652672.2:c.4978A=	ENSP00000498906.2:p.Ile1660=
ENST00000484087.6:c.1681A=	ENSP00000419481.2:p.Ile561=
ENST00000357654.9:c.5119A= MANE Select	ENSP00000350283.3:p.Ile1707=
ENST00000471181.7:c.5182A=	ENSP00000418960.2:p.Ile1728=
ENST00000644379.1:c.1506A=
ENST00000352993.7:c.1693A=	ENSP00000312236.5:p.Ile565=
ENST00000357654.7:c.5119A=	ENSP00000350283.3:p.Ile1707=
ENST00000461221.5:c.*4902A=	ENSP00000418548.1:n.*4902A=
ENST00000468300.5:c.1807A=	ENSP00000417148.1:p.Ile603=
ENST00000471181.6:c.5182A=	ENSP00000418960.2:p.Ile1728=
ENST00000478531.5:c.1807A=	ENSP00000420412.1:p.Ile603=
ENST00000484087.5:c.1432A=	ENSP00000419481.1:p.Ile478=
ENST00000491747.6:c.1807A=	ENSP00000420705.2:p.Ile603=
ENST00000493795.5:c.4978A=	ENSP00000418775.1:p.Ile1660=
ENST00000493919.5:c.1669A=	ENSP00000418819.1:p.Ile557=
ENST00000586385.5:c.49A=	ENSP00000465818.1:p.Ile17=
ENST00000591534.5:c.592A=	ENSP00000467329.1:p.Ile198=
ENST00000591849.5:c.-98-13717A=	ENSP00000465347.1:n.-98-13717A=
NM_007294.3:c.5119A= , LRG_292t1:c.5119A=	NP_009225.1:p.Ile1707=
NM_007297.3:c.4978A=	NP_009228.2:p.Ile1660=
NM_007298.3:c.1807A=	NP_009229.2:p.Ile603=
NM_007299.3:c.1807A=	NP_009230.2:p.Ile603=
NM_007300.3:c.5182A=	NP_009231.2:p.Ile1728=
NR_027676.1:n.5255A=
NM_007294.4:c.5119A= MANE Select	NP_009225.1:p.Ile1707=
NM_007297.4:c.4978A=	NP_009228.2:p.Ile1660=
NM_007299.4:c.1807A=	NP_009230.2:p.Ile603=
NM_007300.4:c.5182A=	NP_009231.2:p.Ile1728=
NR_027676.2:n.5296A=