Canonical Allele Identifier: CA2260762743

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43049150T= , CM000679.2:g.43049150T=	GRCh38
NC_000017.10:g.41201167T= , CM000679.1:g.41201167T=	GRCh37
NC_000017.9:g.38454693T=	NCBI36
NG_005905.2:g.168834A= , LRG_292:g.168834A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5374A=	ENSP00000417241.2:p.Lys1792=
ENST00000470026.6:c.5377A=	ENSP00000419274.2:p.Lys1793=
ENST00000473961.6:c.5251A=	ENSP00000420201.2:p.Lys1751=
ENST00000476777.6:c.5371A=	ENSP00000417554.2:p.Lys1791=
ENST00000477152.6:c.5299A=	ENSP00000419988.2:p.Lys1767=
ENST00000478531.6:c.2065A=	ENSP00000420412.2:p.Lys689=
ENST00000489037.2:c.5299A=	ENSP00000420781.2:p.Lys1767=
ENST00000493919.6:c.1927A=	ENSP00000418819.2:p.Lys643=
ENST00000494123.6:c.5377A=	ENSP00000419103.2:p.Lys1793=
ENST00000497488.2:c.4489A=	ENSP00000418986.2:p.Lys1497=
ENST00000618469.2:c.5377A=	ENSP00000478114.2:p.Lys1793=
ENST00000634433.2:c.5254A=	ENSP00000489431.2:p.Lys1752=
ENST00000644379.2:c.5443A=	ENSP00000496570.2:p.Lys1815=
ENST00000644555.2:c.1927A=	ENSP00000494614.2:p.Lys643=
ENST00000652672.2:c.5236A=	ENSP00000498906.2:p.Lys1746=
ENST00000484087.6:c.1939A=	ENSP00000419481.2:p.Lys647=
ENST00000700081.1:n.1260A=
ENST00000357654.9:c.5377A= MANE Select	ENSP00000350283.3:p.Lys1793=
ENST00000471181.7:c.5440A=	ENSP00000418960.2:p.Lys1814=
ENST00000644379.1:c.1764A=
ENST00000352993.7:c.1951A=	ENSP00000312236.5:p.Lys651=
ENST00000357654.7:c.5377A=	ENSP00000350283.3:p.Lys1793=
ENST00000461221.5:c.*5160A=	ENSP00000418548.1:n.*5160A=
ENST00000468300.5:c.2021-1447A=	ENSP00000417148.1:n.2021-1447A=
ENST00000471181.6:c.5440A=	ENSP00000418960.2:p.Lys1814=
ENST00000491747.6:c.2065A=	ENSP00000420705.2:p.Lys689=
ENST00000493795.5:c.5236A=	ENSP00000418775.1:p.Lys1746=
ENST00000586385.5:c.307A=	ENSP00000465818.1:p.Lys103=
ENST00000591534.5:c.850A=	ENSP00000467329.1:p.Lys284=
ENST00000591849.5:c.76A=	ENSP00000465347.1:p.Lys26=
NM_007294.3:c.5377A= , LRG_292t1:c.5377A=	NP_009225.1:p.Lys1793=
NM_007297.3:c.5236A=	NP_009228.2:p.Lys1746=
NM_007298.3:c.2065A=	NP_009229.2:p.Lys689=
NM_007299.3:c.2021-1447A=	NP_009230.2:n.2021-1447A=
NM_007300.3:c.5440A=	NP_009231.2:p.Lys1814=
NR_027676.1:n.5513A=
NM_007294.4:c.5377A= MANE Select	NP_009225.1:p.Lys1793=
NM_007297.4:c.5236A=	NP_009228.2:p.Lys1746=
NM_007299.4:c.2021-1447A=	NP_009230.2:n.2021-1447A=
NM_007300.4:c.5440A=	NP_009231.2:p.Lys1814=
NR_027676.2:n.5554A=