Canonical Allele Identifier: CA2260775493
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43076550A= , CM000679.2:g.43076550A= GRCh38
NC_000017.10:g.41228567A= , CM000679.1:g.41228567A= GRCh37
NC_000017.9:g.38482093A= NCBI36
NG_005905.2:g.141434T= , LRG_292:g.141434T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.4419T= ENSP00000417241.2:p.Ala1473=
ENST00000470026.6:c.4422T= ENSP00000419274.2:p.Ala1474=
ENST00000473961.6:c.4296T= ENSP00000420201.2:p.Ala1432=
ENST00000476777.6:c.4416T= ENSP00000417554.2:p.Ala1472=
ENST00000477152.6:c.4344T= ENSP00000419988.2:p.Ala1448=
ENST00000478531.6:c.1110T= ENSP00000420412.2:p.Ala370=
ENST00000489037.2:c.4344T= ENSP00000420781.2:p.Ala1448=
ENST00000493919.6:c.972T= ENSP00000418819.2:p.Ala324=
ENST00000494123.6:c.4422T= ENSP00000419103.2:p.Ala1474=
ENST00000497488.2:c.3534T= ENSP00000418986.2:p.Ala1178=
ENST00000618469.2:c.4422T= ENSP00000478114.2:p.Ala1474=
ENST00000634433.2:c.4299T= ENSP00000489431.2:p.Ala1433=
ENST00000644379.2:c.4488T= ENSP00000496570.2:p.Ala1496=
ENST00000644555.2:c.972T= ENSP00000494614.2:p.Ala324=
ENST00000652672.2:c.4281T= ENSP00000498906.2:p.Ala1427=
ENST00000484087.6:c.984T= ENSP00000419481.2:p.Ala328=
ENST00000700182.1:c.1029T= ENSP00000514849.1:p.Ala343=
ENST00000357654.9:c.4422T= MANE Select ENSP00000350283.3:p.Ala1474=
ENST00000471181.7:c.4485T= ENSP00000418960.2:p.Ala1495=
ENST00000644379.1:c.809T=
ENST00000352993.7:c.996T= ENSP00000312236.5:p.Ala332=
ENST00000357654.7:c.4422T= ENSP00000350283.3:p.Ala1474=
ENST00000461221.5:c.*4205T= ENSP00000418548.1:n.*4205T=
ENST00000461574.1:c.713T=
ENST00000468300.5:c.1110T= ENSP00000417148.1:p.Ala370=
ENST00000471181.6:c.4485T= ENSP00000418960.2:p.Ala1495=
ENST00000478531.5:c.1110T= ENSP00000420412.1:p.Ala370=
ENST00000484087.5:c.735T= ENSP00000419481.1:p.Ala245=
ENST00000487825.5:c.738T= ENSP00000418212.1:p.Ala246=
ENST00000491747.6:c.1110T= ENSP00000420705.2:p.Ala370=
ENST00000493795.5:c.4281T= ENSP00000418775.1:p.Ala1427=
ENST00000493919.5:c.972T= ENSP00000418819.1:p.Ala324=
ENST00000586385.5:c.5-12599T= ENSP00000465818.1:n.5-12599T=
ENST00000591534.5:c.-43-2029T= ENSP00000467329.1:n.-43-2029T=
ENST00000591849.5:c.-98-26360T= ENSP00000465347.1:n.-98-26360T=
ENST00000621897.1:n.313T=
NM_007294.3:c.4422T= , LRG_292t1:c.4422T= NP_009225.1:p.Ala1474=
NM_007297.3:c.4281T= NP_009228.2:p.Ala1427=
NM_007298.3:c.1110T= NP_009229.2:p.Ala370=
NM_007299.3:c.1110T= NP_009230.2:p.Ala370=
NM_007300.3:c.4485T= NP_009231.2:p.Ala1495=
NR_027676.1:n.4558T=
NM_007294.4:c.4422T= MANE Select NP_009225.1:p.Ala1474=
NM_007297.4:c.4281T= NP_009228.2:p.Ala1427=
NM_007299.4:c.1110T= NP_009230.2:p.Ala370=
NM_007300.4:c.4485T= NP_009231.2:p.Ala1495=
NR_027676.2:n.4599T=