Canonical Allele Identifier: CA10593835
Gene: BRCA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091468T>A , CM000679.2:g.43091468T>A GRCh38
NC_000017.10:g.41243485T>A , CM000679.1:g.41243485T>A GRCh37
NC_000017.9:g.38497011T>A NCBI36
NG_005905.2:g.126516A>T , LRG_292:g.126516A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.4127A>T
ENST00000461574.2:c.4063A>T ENSP00000417241.2:p.Asn1355Tyr
ENST00000470026.6:c.4063A>T ENSP00000419274.2:p.Asn1355Tyr
ENST00000473961.6:c.3937A>T ENSP00000420201.2:p.Asn1313Tyr
ENST00000476777.6:c.4060A>T ENSP00000417554.2:p.Asn1354Tyr
ENST00000477152.6:c.3985A>T ENSP00000419988.2:p.Asn1329Tyr
ENST00000478531.6:c.785-436A>T ENSP00000420412.2:n.785-436A>T
ENST00000489037.2:c.3985A>T ENSP00000420781.2:p.Asn1329Tyr
ENST00000493919.6:c.647-436A>T ENSP00000418819.2:n.647-436A>T
ENST00000494123.6:c.4063A>T ENSP00000419103.2:p.Asn1355Tyr
ENST00000497488.2:c.3175A>T ENSP00000418986.2:p.Asn1059Tyr
ENST00000618469.2:c.4063A>T ENSP00000478114.2:p.Asn1355Tyr
ENST00000634433.2:c.3940A>T ENSP00000489431.2:p.Asn1314Tyr
ENST00000644379.2:c.4063A>T ENSP00000496570.2:p.Asn1355Tyr
ENST00000644555.2:c.647-436A>T ENSP00000494614.2:n.647-436A>T
ENST00000652672.2:c.3922A>T ENSP00000498906.2:p.Asn1308Tyr
ENST00000484087.6:c.665-436A>T ENSP00000419481.2:n.665-436A>T
ENST00000700182.1:c.707-436A>T ENSP00000514849.1:n.707-436A>T
ENST00000357654.9:c.4063A>T MANE Select ENSP00000350283.3:p.Asn1355Tyr
ENST00000471181.7:c.4063A>T ENSP00000418960.2:p.Asn1355Tyr
ENST00000644379.1:c.384A>T
ENST00000352993.7:c.671-436A>T ENSP00000312236.5:n.671-436A>T
ENST00000354071.7:c.4063A>T ENSP00000326002.7:p.Asn1355Tyr
ENST00000357654.7:c.4063A>T ENSP00000350283.3:p.Asn1355Tyr
ENST00000461221.5:c.*3846A>T ENSP00000418548.1:n.*3846A>T
ENST00000461574.1:c.357A>T
ENST00000468300.5:c.788-436A>T ENSP00000417148.1:n.788-436A>T
ENST00000471181.6:c.4063A>T ENSP00000418960.2:p.Asn1355Tyr
ENST00000478531.5:c.785-436A>T ENSP00000420412.1:n.785-436A>T
ENST00000484087.5:c.410-436A>T ENSP00000419481.1:n.410-436A>T
ENST00000487825.5:c.413-436A>T ENSP00000418212.1:n.413-436A>T
ENST00000491747.6:c.788-436A>T ENSP00000420705.2:n.788-436A>T
ENST00000493795.5:c.3922A>T ENSP00000418775.1:p.Asn1308Tyr
ENST00000493919.5:c.647-436A>T ENSP00000418819.1:n.647-436A>T
ENST00000586385.5:c.5-27517A>T ENSP00000465818.1:n.5-27517A>T
ENST00000591534.5:c.-43-16947A>T ENSP00000467329.1:n.-43-16947A>T
ENST00000591849.5:c.-99+33803A>T ENSP00000465347.1:n.-99+33803A>T
NM_007294.3:c.4063A>T , LRG_292t1:c.4063A>T NP_009225.1:p.Asn1355Tyr
NM_007297.3:c.3922A>T NP_009228.2:p.Asn1308Tyr
NM_007298.3:c.788-436A>T NP_009229.2:n.788-436A>T
NM_007299.3:c.788-436A>T NP_009230.2:n.788-436A>T
NM_007300.3:c.4063A>T NP_009231.2:p.Asn1355Tyr
NR_027676.1:n.4199A>T
NM_007294.4:c.4063A>T MANE Select NP_009225.1:p.Asn1355Tyr
NM_007297.4:c.3922A>T NP_009228.2:p.Asn1308Tyr
NM_007299.4:c.788-436A>T NP_009230.2:n.788-436A>T
NM_007300.4:c.4063A>T NP_009231.2:p.Asn1355Tyr
NR_027676.2:n.4240A>T