Canonical Allele Identifier: CA2260781993
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091513A= , CM000679.2:g.43091513A= GRCh38
NC_000017.10:g.41243530A= , CM000679.1:g.41243530A= GRCh37
NC_000017.9:g.38497056A= NCBI36
NG_005905.2:g.126471T= , LRG_292:g.126471T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.4082T=
ENST00000461574.2:c.4018T= ENSP00000417241.2:p.Leu1340=
ENST00000470026.6:c.4018T= ENSP00000419274.2:p.Leu1340=
ENST00000473961.6:c.3892T= ENSP00000420201.2:p.Leu1298=
ENST00000476777.6:c.4015T= ENSP00000417554.2:p.Leu1339=
ENST00000477152.6:c.3940T= ENSP00000419988.2:p.Leu1314=
ENST00000478531.6:c.785-481T= ENSP00000420412.2:n.785-481T=
ENST00000489037.2:c.3940T= ENSP00000420781.2:p.Leu1314=
ENST00000493919.6:c.647-481T= ENSP00000418819.2:n.647-481T=
ENST00000494123.6:c.4018T= ENSP00000419103.2:p.Leu1340=
ENST00000497488.2:c.3130T= ENSP00000418986.2:p.Leu1044=
ENST00000618469.2:c.4018T= ENSP00000478114.2:p.Leu1340=
ENST00000634433.2:c.3895T= ENSP00000489431.2:p.Leu1299=
ENST00000644379.2:c.4018T= ENSP00000496570.2:p.Leu1340=
ENST00000644555.2:c.647-481T= ENSP00000494614.2:n.647-481T=
ENST00000652672.2:c.3877T= ENSP00000498906.2:p.Leu1293=
ENST00000484087.6:c.665-481T= ENSP00000419481.2:n.665-481T=
ENST00000700182.1:c.707-481T= ENSP00000514849.1:n.707-481T=
ENST00000357654.9:c.4018T= MANE Select ENSP00000350283.3:p.Leu1340=
ENST00000471181.7:c.4018T= ENSP00000418960.2:p.Leu1340=
ENST00000644379.1:c.339T=
ENST00000352993.7:c.671-481T= ENSP00000312236.5:n.671-481T=
ENST00000354071.7:c.4018T= ENSP00000326002.7:p.Leu1340=
ENST00000357654.7:c.4018T= ENSP00000350283.3:p.Leu1340=
ENST00000461221.5:c.*3801T= ENSP00000418548.1:n.*3801T=
ENST00000461574.1:c.312T=
ENST00000468300.5:c.788-481T= ENSP00000417148.1:n.788-481T=
ENST00000471181.6:c.4018T= ENSP00000418960.2:p.Leu1340=
ENST00000478531.5:c.785-481T= ENSP00000420412.1:n.785-481T=
ENST00000484087.5:c.410-481T= ENSP00000419481.1:n.410-481T=
ENST00000487825.5:c.413-481T= ENSP00000418212.1:n.413-481T=
ENST00000491747.6:c.788-481T= ENSP00000420705.2:n.788-481T=
ENST00000493795.5:c.3877T= ENSP00000418775.1:p.Leu1293=
ENST00000493919.5:c.647-481T= ENSP00000418819.1:n.647-481T=
ENST00000586385.5:c.5-27562T= ENSP00000465818.1:n.5-27562T=
ENST00000591534.5:c.-43-16992T= ENSP00000467329.1:n.-43-16992T=
ENST00000591849.5:c.-99+33758T= ENSP00000465347.1:n.-99+33758T=
NM_007294.3:c.4018T= , LRG_292t1:c.4018T= NP_009225.1:p.Leu1340=
NM_007297.3:c.3877T= NP_009228.2:p.Leu1293=
NM_007298.3:c.788-481T= NP_009229.2:n.788-481T=
NM_007299.3:c.788-481T= NP_009230.2:n.788-481T=
NM_007300.3:c.4018T= NP_009231.2:p.Leu1340=
NR_027676.1:n.4154T=
NM_007294.4:c.4018T= MANE Select NP_009225.1:p.Leu1340=
NM_007297.4:c.3877T= NP_009228.2:p.Leu1293=
NM_007299.4:c.788-481T= NP_009230.2:n.788-481T=
NM_007300.4:c.4018T= NP_009231.2:p.Leu1340=
NR_027676.2:n.4195T=