Canonical Allele Identifier: CA003201
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 37632
dbSNP Id: rs80187739
CIViC: CA003201

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43067608C>T , CM000679.2:g.43067608C>T GRCh38
NC_000017.10:g.41219625C>T , CM000679.1:g.41219625C>T GRCh37
NC_000017.9:g.38473151C>T NCBI36
NG_005905.2:g.150376G>A , LRG_292:g.150376G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000357654.9:c.5074G>A MANE Select ENSP00000350283.3:p.Asp1692Asn
ENST00000471181.7:c.5137G>A ENSP00000418960.2:p.Asp1713Asn
ENST00000644379.1:n.1461G>A
ENST00000352993.7:c.1648G>A ENSP00000312236.5:p.Asp550Asn
ENST00000357654.7:c.5074G>A ENSP00000350283.3:p.Asp1692Asn
ENST00000461221.5:c.*4857G>A ENSP00000418548.1:p.=
ENST00000468300.5:c.1762G>A ENSP00000417148.1:p.Asp588Asn
ENST00000471181.6:c.5137G>A ENSP00000418960.2:p.Asp1713Asn
ENST00000472490.1:n.227G>A
ENST00000478531.5:c.1762G>A ENSP00000420412.1:p.Asp588Asn
ENST00000484087.5:n.1387G>A ENSP00000419481.1:p.Asp463Asn
ENST00000491747.6:c.1762G>A ENSP00000420705.2:p.Asp588Asn
ENST00000493795.5:c.4933G>A ENSP00000418775.1:p.Asp1645Asn
ENST00000493919.5:c.1624G>A ENSP00000418819.1:p.Asp542Asn
ENST00000586385.5:c.5-3657G>A ENSP00000465818.1:p.=
ENST00000591534.5:c.547G>A ENSP00000467329.1:p.Asp183Asn
ENST00000591849.5:c.-98-17418G>A ENSP00000465347.1:p.=
NM_007294.3:c.5074G>A , LRG_292t1:c.5074G>A NP_009225.1:p.Asp1692Asn
NM_007297.3:c.4933G>A NP_009228.2:p.Asp1645Asn
NM_007298.3:c.1762G>A NP_009229.2:p.Asp588Asn
NM_007299.3:c.1762G>A NP_009230.2:p.Asp588Asn
NM_007300.3:c.5137G>A NP_009231.2:p.Asp1713Asn
NR_027676.1:n.5210G>A
NM_007294.4:c.5074G>A MANE Select NP_009225.1:p.Asp1692Asn
NM_007297.4:c.4933G>A NP_009228.2:p.Asp1645Asn
NM_007299.4:c.1762G>A NP_009230.2:p.Asp588Asn
NM_007300.4:c.5137G>A NP_009231.2:p.Asp1713Asn
NR_027676.2:n.5251G>A