Canonical Allele Identifier: CA2260771402

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067683T= , CM000679.2:g.43067683T=	GRCh38
NC_000017.10:g.41219700T= , CM000679.1:g.41219700T=	GRCh37
NC_000017.9:g.38473226T=	NCBI36
NG_005905.2:g.150301A= , LRG_292:g.150301A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4996A=	ENSP00000417241.2:p.Lys1666=
ENST00000470026.6:c.4999A=	ENSP00000419274.2:p.Lys1667=
ENST00000473961.6:c.4873A=	ENSP00000420201.2:p.Lys1625=
ENST00000476777.6:c.4993A=	ENSP00000417554.2:p.Lys1665=
ENST00000477152.6:c.4921A=	ENSP00000419988.2:p.Lys1641=
ENST00000478531.6:c.1687A=	ENSP00000420412.2:p.Lys563=
ENST00000489037.2:c.4921A=	ENSP00000420781.2:p.Lys1641=
ENST00000493919.6:c.1549A=	ENSP00000418819.2:p.Lys517=
ENST00000494123.6:c.4999A=	ENSP00000419103.2:p.Lys1667=
ENST00000497488.2:c.4111A=	ENSP00000418986.2:p.Lys1371=
ENST00000618469.2:c.4999A=	ENSP00000478114.2:p.Lys1667=
ENST00000634433.2:c.4876A=	ENSP00000489431.2:p.Lys1626=
ENST00000644379.2:c.5065A=	ENSP00000496570.2:p.Lys1689=
ENST00000644555.2:c.1549A=	ENSP00000494614.2:p.Lys517=
ENST00000652672.2:c.4858A=	ENSP00000498906.2:p.Lys1620=
ENST00000484087.6:c.1561A=	ENSP00000419481.2:p.Lys521=
ENST00000357654.9:c.4999A= MANE Select	ENSP00000350283.3:p.Lys1667=
ENST00000471181.7:c.5062A=	ENSP00000418960.2:p.Lys1688=
ENST00000644379.1:c.1386A=
ENST00000352993.7:c.1573A=	ENSP00000312236.5:p.Lys525=
ENST00000357654.7:c.4999A=	ENSP00000350283.3:p.Lys1667=
ENST00000461221.5:c.*4782A=	ENSP00000418548.1:n.*4782A=
ENST00000468300.5:c.1687A=	ENSP00000417148.1:p.Lys563=
ENST00000471181.6:c.5062A=	ENSP00000418960.2:p.Lys1688=
ENST00000472490.1:n.152A=
ENST00000478531.5:c.1687A=	ENSP00000420412.1:p.Lys563=
ENST00000484087.5:c.1312A=	ENSP00000419481.1:p.Lys438=
ENST00000491747.6:c.1687A=	ENSP00000420705.2:p.Lys563=
ENST00000493795.5:c.4858A=	ENSP00000418775.1:p.Lys1620=
ENST00000493919.5:c.1549A=	ENSP00000418819.1:p.Lys517=
ENST00000586385.5:c.5-3732A=	ENSP00000465818.1:n.5-3732A=
ENST00000591534.5:c.472A=	ENSP00000467329.1:p.Lys158=
ENST00000591849.5:c.-98-17493A=	ENSP00000465347.1:n.-98-17493A=
NM_007294.3:c.4999A= , LRG_292t1:c.4999A=	NP_009225.1:p.Lys1667=
NM_007297.3:c.4858A=	NP_009228.2:p.Lys1620=
NM_007298.3:c.1687A=	NP_009229.2:p.Lys563=
NM_007299.3:c.1687A=	NP_009230.2:p.Lys563=
NM_007300.3:c.5062A=	NP_009231.2:p.Lys1688=
NR_027676.1:n.5135A=
NM_007294.4:c.4999A= MANE Select	NP_009225.1:p.Lys1667=
NM_007297.4:c.4858A=	NP_009228.2:p.Lys1620=
NM_007299.4:c.1687A=	NP_009230.2:p.Lys563=
NM_007300.4:c.5062A=	NP_009231.2:p.Lys1688=
NR_027676.2:n.5176A=