Canonical Allele Identifier: CA002952
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 55254
dbSNP Id: rs80357431

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43074349A>T , CM000679.2:g.43074349A>T GRCh38
NC_000017.10:g.41226366A>T , CM000679.1:g.41226366A>T GRCh37
NC_000017.9:g.38479892A>T NCBI36
NG_005905.2:g.143635T>A , LRG_292:g.143635T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.4654T>A ENSP00000417241.2:p.Leu1552Met
ENST00000470026.6:c.4657T>A ENSP00000419274.2:p.Leu1553Met
ENST00000473961.6:c.4531T>A ENSP00000420201.2:p.Leu1511Met
ENST00000476777.6:c.4651T>A ENSP00000417554.2:p.Leu1551Met
ENST00000477152.6:c.4579T>A ENSP00000419988.2:p.Leu1527Met
ENST00000478531.6:c.1345T>A ENSP00000420412.2:p.Leu449Met
ENST00000489037.2:c.4579T>A ENSP00000420781.2:p.Leu1527Met
ENST00000493919.6:c.1207T>A ENSP00000418819.2:p.Leu403Met
ENST00000494123.6:c.4657T>A ENSP00000419103.2:p.Leu1553Met
ENST00000497488.2:c.3769T>A ENSP00000418986.2:p.Leu1257Met
ENST00000618469.2:c.4657T>A ENSP00000478114.2:p.Leu1553Met
ENST00000634433.2:c.4534T>A ENSP00000489431.2:p.Leu1512Met
ENST00000644379.2:c.4723T>A ENSP00000496570.2:p.Leu1575Met
ENST00000644555.2:c.1207T>A ENSP00000494614.2:p.Leu403Met
ENST00000652672.2:c.4516T>A ENSP00000498906.2:p.Leu1506Met
ENST00000484087.6:c.1219T>A ENSP00000419481.2:p.Leu407Met
ENST00000700182.1:c.1264T>A ENSP00000514849.1:p.Leu422Met
ENST00000357654.9:c.4657T>A MANE Select ENSP00000350283.3:p.Leu1553Met
ENST00000471181.7:c.4720T>A ENSP00000418960.2:p.Leu1574Met
ENST00000644379.1:c.1044T>A
ENST00000352993.7:c.1231T>A ENSP00000312236.5:p.Leu411Met
ENST00000357654.7:c.4657T>A ENSP00000350283.3:p.Leu1553Met
ENST00000461221.5:c.*4440T>A ENSP00000418548.1:n.*4440T>A
ENST00000468300.5:c.1345T>A ENSP00000417148.1:p.Leu449Met
ENST00000471181.6:c.4720T>A ENSP00000418960.2:p.Leu1574Met
ENST00000478531.5:c.1345T>A ENSP00000420412.1:p.Leu449Met
ENST00000484087.5:c.970T>A ENSP00000419481.1:p.Leu324Met
ENST00000491747.6:c.1345T>A ENSP00000420705.2:p.Leu449Met
ENST00000493795.5:c.4516T>A ENSP00000418775.1:p.Leu1506Met
ENST00000493919.5:c.1207T>A ENSP00000418819.1:p.Leu403Met
ENST00000586385.5:c.5-10398T>A ENSP00000465818.1:n.5-10398T>A
ENST00000591534.5:c.130T>A ENSP00000467329.1:p.Leu44Met
ENST00000591849.5:c.-98-24159T>A ENSP00000465347.1:n.-98-24159T>A
NM_007294.3:c.4657T>A , LRG_292t1:c.4657T>A NP_009225.1:p.Leu1553Met
NM_007297.3:c.4516T>A NP_009228.2:p.Leu1506Met
NM_007298.3:c.1345T>A NP_009229.2:p.Leu449Met
NM_007299.3:c.1345T>A NP_009230.2:p.Leu449Met
NM_007300.3:c.4720T>A NP_009231.2:p.Leu1574Met
NR_027676.1:n.4793T>A
NM_007294.4:c.4657T>A MANE Select NP_009225.1:p.Leu1553Met
NM_007297.4:c.4516T>A NP_009228.2:p.Leu1506Met
NM_007299.4:c.1345T>A NP_009230.2:p.Leu449Met
NM_007300.4:c.4720T>A NP_009231.2:p.Leu1574Met
NR_027676.2:n.4834T>A