Canonical Allele Identifier: CA10592302

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074400C>T , CM000679.2:g.43074400C>T	GRCh38
NC_000017.10:g.41226417C>T , CM000679.1:g.41226417C>T	GRCh37
NC_000017.9:g.38479943C>T	NCBI36
NG_005905.2:g.143584G>A , LRG_292:g.143584G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.4606G>A MANE Select	NP_009225.1:p.Glu1536Lys
ENST00000357654.9:c.4606G>A MANE Select	ENSP00000350283.3:p.Glu1536Lys
NM_007294.3:c.4606G>A , LRG_292t1:c.4606G>A	NP_009225.1:p.Glu1536Lys
NM_007297.3:c.4465G>A	NP_009228.2:p.Glu1489Lys
NM_007297.4:c.4465G>A	NP_009228.2:p.Glu1489Lys
NM_007298.3:c.1294G>A	NP_009229.2:p.Glu432Lys
NM_007299.3:c.1294G>A	NP_009230.2:p.Glu432Lys
NM_007299.4:c.1294G>A	NP_009230.2:p.Glu432Lys
NM_007300.3:c.4669G>A	NP_009231.2:p.Glu1557Lys
NM_007300.4:c.4669G>A	NP_009231.2:p.Glu1557Lys
NR_027676.1:n.4742G>A
NR_027676.2:n.4783G>A
ENST00000352993.7:c.1180G>A	ENSP00000312236.5:p.Glu394Lys
ENST00000357654.7:c.4606G>A	ENSP00000350283.3:p.Glu1536Lys
ENST00000461221.5:c.*4389G>A	ENSP00000418548.1:n.*4389G>A
ENST00000461574.2:c.4603G>A	ENSP00000417241.2:p.Glu1535Lys
ENST00000468300.5:c.1294G>A	ENSP00000417148.1:p.Glu432Lys
ENST00000470026.6:c.4606G>A	ENSP00000419274.2:p.Glu1536Lys
ENST00000471181.6:c.4669G>A	ENSP00000418960.2:p.Glu1557Lys
ENST00000471181.7:c.4669G>A	ENSP00000418960.2:p.Glu1557Lys
ENST00000473961.6:c.4480G>A	ENSP00000420201.2:p.Glu1494Lys
ENST00000476777.6:c.4600G>A	ENSP00000417554.2:p.Glu1534Lys
ENST00000477152.6:c.4528G>A	ENSP00000419988.2:p.Glu1510Lys
ENST00000478531.5:c.1294G>A	ENSP00000420412.1:p.Glu432Lys
ENST00000478531.6:c.1294G>A	ENSP00000420412.2:p.Glu432Lys
ENST00000484087.5:c.919G>A	ENSP00000419481.1:p.Glu307Lys
ENST00000484087.6:c.1168G>A	ENSP00000419481.2:p.Glu390Lys
ENST00000489037.2:c.4528G>A	ENSP00000420781.2:p.Glu1510Lys
ENST00000491747.6:c.1294G>A	ENSP00000420705.2:p.Glu432Lys
ENST00000493795.5:c.4465G>A	ENSP00000418775.1:p.Glu1489Lys
ENST00000493919.5:c.1156G>A	ENSP00000418819.1:p.Glu386Lys
ENST00000493919.6:c.1156G>A	ENSP00000418819.2:p.Glu386Lys
ENST00000494123.6:c.4606G>A	ENSP00000419103.2:p.Glu1536Lys
ENST00000497488.2:c.3718G>A	ENSP00000418986.2:p.Glu1240Lys
ENST00000586385.5:c.5-10449G>A	ENSP00000465818.1:n.5-10449G>A
ENST00000591534.5:c.79G>A	ENSP00000467329.1:p.Glu27Lys
ENST00000591849.5:c.-98-24210G>A	ENSP00000465347.1:n.-98-24210G>A
ENST00000618469.2:c.4606G>A	ENSP00000478114.2:p.Glu1536Lys
ENST00000634433.2:c.4483G>A	ENSP00000489431.2:p.Glu1495Lys
ENST00000644379.1:c.993G>A
ENST00000644379.2:c.4672G>A	ENSP00000496570.2:p.Glu1558Lys
ENST00000644555.2:c.1156G>A	ENSP00000494614.2:p.Glu386Lys
ENST00000652672.2:c.4465G>A	ENSP00000498906.2:p.Glu1489Lys
ENST00000700182.1:c.1213G>A	ENSP00000514849.1:p.Glu405Lys