Canonical Allele Identifier: CA10592301
Community Standard Title: NM_007294.4(BRCA1):c.4606G>T (p.Glu1536Ter)
Gene: BRCA1 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_007294.4:c.4606G>T MANE Select NP_009225.1:p.Glu1536Ter
ENST00000357654.9:c.4606G>T MANE Select ENSP00000350283.3:p.Glu1536Ter
NM_007294.3:c.4606G>T , LRG_292t1:c.4606G>T NP_009225.1:p.Glu1536Ter
NM_007297.3:c.4465G>T NP_009228.2:p.Glu1489Ter
NM_007297.4:c.4465G>T NP_009228.2:p.Glu1489Ter
NM_007298.3:c.1294G>T NP_009229.2:p.Glu432Ter
NM_007299.3:c.1294G>T NP_009230.2:p.Glu432Ter
NM_007299.4:c.1294G>T NP_009230.2:p.Glu432Ter
NM_007300.3:c.4669G>T NP_009231.2:p.Glu1557Ter
NM_007300.4:c.4669G>T NP_009231.2:p.Glu1557Ter
NR_027676.1:n.4742G>T
NR_027676.2:n.4783G>T
ENST00000352993.7:c.1180G>T ENSP00000312236.5:p.Glu394Ter
ENST00000357654.7:c.4606G>T ENSP00000350283.3:p.Glu1536Ter
ENST00000461221.5:c.*4389G>T ENSP00000418548.1:n.*4389G>T
ENST00000461574.2:c.4603G>T ENSP00000417241.2:p.Glu1535Ter
ENST00000468300.5:c.1294G>T ENSP00000417148.1:p.Glu432Ter
ENST00000470026.6:c.4606G>T ENSP00000419274.2:p.Glu1536Ter
ENST00000471181.6:c.4669G>T ENSP00000418960.2:p.Glu1557Ter
ENST00000471181.7:c.4669G>T ENSP00000418960.2:p.Glu1557Ter
ENST00000473961.6:c.4480G>T ENSP00000420201.2:p.Glu1494Ter
ENST00000476777.6:c.4600G>T ENSP00000417554.2:p.Glu1534Ter
ENST00000477152.6:c.4528G>T ENSP00000419988.2:p.Glu1510Ter
ENST00000478531.5:c.1294G>T ENSP00000420412.1:p.Glu432Ter
ENST00000478531.6:c.1294G>T ENSP00000420412.2:p.Glu432Ter
ENST00000484087.5:c.919G>T ENSP00000419481.1:p.Glu307Ter
ENST00000484087.6:c.1168G>T ENSP00000419481.2:p.Glu390Ter
ENST00000489037.2:c.4528G>T ENSP00000420781.2:p.Glu1510Ter
ENST00000491747.6:c.1294G>T ENSP00000420705.2:p.Glu432Ter
ENST00000493795.5:c.4465G>T ENSP00000418775.1:p.Glu1489Ter
ENST00000493919.5:c.1156G>T ENSP00000418819.1:p.Glu386Ter
ENST00000493919.6:c.1156G>T ENSP00000418819.2:p.Glu386Ter
ENST00000494123.6:c.4606G>T ENSP00000419103.2:p.Glu1536Ter
ENST00000497488.2:c.3718G>T ENSP00000418986.2:p.Glu1240Ter
ENST00000586385.5:c.5-10449G>T ENSP00000465818.1:n.5-10449G>T
ENST00000591534.5:c.79G>T ENSP00000467329.1:p.Glu27Ter
ENST00000591849.5:c.-98-24210G>T ENSP00000465347.1:n.-98-24210G>T
ENST00000618469.2:c.4606G>T ENSP00000478114.2:p.Glu1536Ter
ENST00000634433.2:c.4483G>T ENSP00000489431.2:p.Glu1495Ter
ENST00000644379.1:c.993G>T
ENST00000644379.2:c.4672G>T ENSP00000496570.2:p.Glu1558Ter
ENST00000644555.2:c.1156G>T ENSP00000494614.2:p.Glu386Ter
ENST00000652672.2:c.4465G>T ENSP00000498906.2:p.Glu1489Ter
ENST00000700182.1:c.1213G>T ENSP00000514849.1:p.Glu405Ter