Canonical Allele Identifier: CA10600522

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094752T>C , CM000679.2:g.43094752T>C	GRCh38
NC_000017.10:g.41246769T>C , CM000679.1:g.41246769T>C	GRCh37
NC_000017.9:g.38500295T>C	NCBI36
NG_005905.2:g.123232A>G , LRG_292:g.123232A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.779A>G MANE Select	NP_009225.1:p.Lys260Arg
ENST00000357654.9:c.779A>G MANE Select	ENSP00000350283.3:p.Lys260Arg
NM_007294.3:c.779A>G , LRG_292t1:c.779A>G	NP_009225.1:p.Lys260Arg
NM_007297.3:c.638A>G	NP_009228.2:p.Lys213Arg
NM_007297.4:c.638A>G	NP_009228.2:p.Lys213Arg
NM_007298.3:c.779A>G	NP_009229.2:p.Lys260Arg
NM_007299.3:c.779A>G	NP_009230.2:p.Lys260Arg
NM_007299.4:c.779A>G	NP_009230.2:p.Lys260Arg
NM_007300.3:c.779A>G	NP_009231.2:p.Lys260Arg
NM_007300.4:c.779A>G	NP_009231.2:p.Lys260Arg
NR_027676.1:n.915A>G
NR_027676.2:n.956A>G
ENST00000352993.7:c.670+1094A>G	ENSP00000312236.5:n.670+1094A>G
ENST00000354071.7:c.779A>G	ENSP00000326002.7:p.Lys260Arg
ENST00000354071.8:n.843A>G
ENST00000357654.7:c.779A>G	ENSP00000350283.3:p.Lys260Arg
ENST00000412061.3:c.130A>G
ENST00000461221.5:c.*562A>G	ENSP00000418548.1:n.*562A>G
ENST00000461574.2:c.779A>G	ENSP00000417241.2:p.Lys260Arg
ENST00000468300.5:c.779A>G	ENSP00000417148.1:p.Lys260Arg
ENST00000470026.5:c.779A>G	ENSP00000419274.1:p.Lys260Arg
ENST00000470026.6:c.779A>G	ENSP00000419274.2:p.Lys260Arg
ENST00000471181.6:c.779A>G	ENSP00000418960.2:p.Lys260Arg
ENST00000471181.7:c.779A>G	ENSP00000418960.2:p.Lys260Arg
ENST00000473961.5:c.376A>G
ENST00000473961.6:c.653A>G	ENSP00000420201.2:p.Lys218Arg
ENST00000476777.6:c.776A>G	ENSP00000417554.2:p.Lys259Arg
ENST00000477152.5:c.701A>G	ENSP00000419988.1:p.Lys234Arg
ENST00000477152.6:c.701A>G	ENSP00000419988.2:p.Lys234Arg
ENST00000478531.5:c.776A>G	ENSP00000420412.1:p.Lys259Arg
ENST00000478531.6:c.776A>G	ENSP00000420412.2:p.Lys259Arg
ENST00000484087.5:c.401A>G	ENSP00000419481.1:p.Lys134Arg
ENST00000484087.6:c.656A>G	ENSP00000419481.2:p.Lys219Arg
ENST00000487825.5:c.404A>G	ENSP00000418212.1:p.Lys135Arg
ENST00000489037.2:c.701A>G	ENSP00000420781.2:p.Lys234Arg
ENST00000491747.6:c.779A>G	ENSP00000420705.2:p.Lys260Arg
ENST00000492859.5:c.*715A>G	ENSP00000420253.1:n.*715A>G
ENST00000493795.5:c.638A>G	ENSP00000418775.1:p.Lys213Arg
ENST00000493919.5:c.638A>G	ENSP00000418819.1:p.Lys213Arg
ENST00000493919.6:c.638A>G	ENSP00000418819.2:p.Lys213Arg
ENST00000494123.5:c.779A>G	ENSP00000419103.1:p.Lys260Arg
ENST00000494123.6:c.779A>G	ENSP00000419103.2:p.Lys260Arg
ENST00000497488.1:c.-110A>G	ENSP00000418986.1:n.-110A>G
ENST00000497488.2:c.-110A>G	ENSP00000418986.2:n.-110A>G
ENST00000586385.5:c.4+30430A>G	ENSP00000465818.1:n.4+30430A>G
ENST00000591534.5:c.-43-20231A>G	ENSP00000467329.1:n.-43-20231A>G
ENST00000591849.5:c.-99+30519A>G	ENSP00000465347.1:n.-99+30519A>G
ENST00000618469.2:c.779A>G	ENSP00000478114.2:p.Lys260Arg
ENST00000634433.1:c.656A>G	ENSP00000489431.1:p.Lys219Arg
ENST00000634433.2:c.656A>G	ENSP00000489431.2:p.Lys219Arg
ENST00000642945.1:c.*653A>G	ENSP00000495897.1:n.*653A>G
ENST00000644379.2:c.779A>G	ENSP00000496570.2:p.Lys260Arg
ENST00000644555.2:c.638A>G	ENSP00000494614.2:p.Lys213Arg
ENST00000652672.1:c.638A>G	ENSP00000498906.1:p.Lys213Arg
ENST00000652672.2:c.638A>G	ENSP00000498906.2:p.Lys213Arg
ENST00000700182.1:c.698A>G	ENSP00000514849.1:p.Lys233Arg
ENST00000700183.1:c.*787A>G	ENSP00000514850.1:n.*787A>G