Canonical Allele Identifier: CA2733917691
Gene: BRCA1 HGNC NCBI

Linked Data

dbSNP Id: rs2154075003

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43076640C>T , CM000679.2:g.43076640C>T GRCh38
NC_000017.10:g.41228657C>T , CM000679.1:g.41228657C>T GRCh37
NC_000017.9:g.38482183C>T NCBI36
NG_005905.2:g.141344G>A , LRG_292:g.141344G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.4358-29G>A ENSP00000417241.2:n.4358-29G>A
ENST00000470026.6:c.4358-26G>A ENSP00000419274.2:n.4358-26G>A
ENST00000473961.6:c.4232-26G>A ENSP00000420201.2:n.4232-26G>A
ENST00000476777.6:c.4352-26G>A ENSP00000417554.2:n.4352-26G>A
ENST00000477152.6:c.4280-26G>A ENSP00000419988.2:n.4280-26G>A
ENST00000478531.6:c.1046-26G>A ENSP00000420412.2:n.1046-26G>A
ENST00000489037.2:c.4280-26G>A ENSP00000420781.2:n.4280-26G>A
ENST00000493919.6:c.908-26G>A ENSP00000418819.2:n.908-26G>A
ENST00000494123.6:c.4358-26G>A ENSP00000419103.2:n.4358-26G>A
ENST00000497488.2:c.3470-26G>A ENSP00000418986.2:n.3470-26G>A
ENST00000618469.2:c.4358-26G>A ENSP00000478114.2:n.4358-26G>A
ENST00000634433.2:c.4235-26G>A ENSP00000489431.2:n.4235-26G>A
ENST00000644379.2:c.4424-26G>A ENSP00000496570.2:n.4424-26G>A
ENST00000644555.2:c.908-26G>A ENSP00000494614.2:n.908-26G>A
ENST00000652672.2:c.4217-26G>A ENSP00000498906.2:n.4217-26G>A
ENST00000484087.6:c.923-29G>A ENSP00000419481.2:n.923-29G>A
ENST00000700182.1:c.968-29G>A ENSP00000514849.1:n.968-29G>A
ENST00000357654.9:c.4358-26G>A MANE Select ENSP00000350283.3:n.4358-26G>A
ENST00000471181.7:c.4424-29G>A ENSP00000418960.2:n.4424-29G>A
ENST00000644379.1:c.745-26G>A
ENST00000352993.7:c.932-26G>A ENSP00000312236.5:n.932-26G>A
ENST00000357654.7:c.4358-26G>A ENSP00000350283.3:n.4358-26G>A
ENST00000461221.5:c.*4141-26G>A ENSP00000418548.1:n.*4141-26G>A
ENST00000461574.1:c.652-29G>A
ENST00000468300.5:c.1049-29G>A ENSP00000417148.1:n.1049-29G>A
ENST00000471181.6:c.4424-29G>A ENSP00000418960.2:n.4424-29G>A
ENST00000478531.5:c.1046-26G>A ENSP00000420412.1:n.1046-26G>A
ENST00000484087.5:c.671-26G>A ENSP00000419481.1:n.671-26G>A
ENST00000487825.5:c.674-26G>A ENSP00000418212.1:n.674-26G>A
ENST00000491747.6:c.1049-29G>A ENSP00000420705.2:n.1049-29G>A
ENST00000493795.5:c.4217-26G>A ENSP00000418775.1:n.4217-26G>A
ENST00000493919.5:c.908-26G>A ENSP00000418819.1:n.908-26G>A
ENST00000586385.5:c.5-12689G>A ENSP00000465818.1:n.5-12689G>A
ENST00000591534.5:c.-43-2119G>A ENSP00000467329.1:n.-43-2119G>A
ENST00000591849.5:c.-98-26450G>A ENSP00000465347.1:n.-98-26450G>A
ENST00000621897.1:n.252-29G>A
NM_007294.3:c.4358-26G>A , LRG_292t1:c.4358-26G>A NP_009225.1:n.4358-26G>A
NM_007297.3:c.4217-26G>A NP_009228.2:n.4217-26G>A
NM_007298.3:c.1049-29G>A NP_009229.2:n.1049-29G>A
NM_007299.3:c.1049-29G>A NP_009230.2:n.1049-29G>A
NM_007300.3:c.4424-29G>A NP_009231.2:n.4424-29G>A
NR_027676.1:n.4494-26G>A
NM_007294.4:c.4358-26G>A MANE Select NP_009225.1:n.4358-26G>A
NM_007297.4:c.4217-26G>A NP_009228.2:n.4217-26G>A
NM_007299.4:c.1049-29G>A NP_009230.2:n.1049-29G>A
NM_007300.4:c.4424-29G>A NP_009231.2:n.4424-29G>A
NR_027676.2:n.4535-26G>A