Canonical Allele Identifier: CA003265

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55415
• ClinVar RCV Id: RCV000112506 ; RCV000129744 ; RCV000586760 ; RCV001280538
• dbSNP Id: rs80357222
• MyVariant Identifiers: chr17:g.41215900T>A (hg19) ; chr17:g.43063883T>A (hg38)
• PubMed: PMID:15235020 ; PMID:15385441 ; PMID:16267036 ; PMID:17305420 ; PMID:20378548 ; PMID:20516115 ; PMID:25748678

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063883T>A , CM000679.2:g.43063883T>A	GRCh38
NC_000017.10:g.41215900T>A , CM000679.1:g.41215900T>A	GRCh37
NC_000017.9:g.38469426T>A	NCBI36
NG_005905.2:g.154101A>T , LRG_292:g.154101A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5140A>T	ENSP00000417241.2:p.Ser1714Cys
ENST00000470026.6:c.5143A>T	ENSP00000419274.2:p.Ser1715Cys
ENST00000473961.6:c.5017A>T	ENSP00000420201.2:p.Ser1673Cys
ENST00000476777.6:c.5137A>T	ENSP00000417554.2:p.Ser1713Cys
ENST00000477152.6:c.5065A>T	ENSP00000419988.2:p.Ser1689Cys
ENST00000478531.6:c.1831A>T	ENSP00000420412.2:p.Ser611Cys
ENST00000489037.2:c.5065A>T	ENSP00000420781.2:p.Ser1689Cys
ENST00000493919.6:c.1693A>T	ENSP00000418819.2:p.Ser565Cys
ENST00000494123.6:c.5143A>T	ENSP00000419103.2:p.Ser1715Cys
ENST00000497488.2:c.4255A>T	ENSP00000418986.2:p.Ser1419Cys
ENST00000618469.2:c.5143A>T	ENSP00000478114.2:p.Ser1715Cys
ENST00000634433.2:c.5020A>T	ENSP00000489431.2:p.Ser1674Cys
ENST00000644379.2:c.5209A>T	ENSP00000496570.2:p.Ser1737Cys
ENST00000644555.2:c.1693A>T	ENSP00000494614.2:p.Ser565Cys
ENST00000652672.2:c.5002A>T	ENSP00000498906.2:p.Ser1668Cys
ENST00000484087.6:c.1705A>T	ENSP00000419481.2:p.Ser569Cys
ENST00000357654.9:c.5143A>T MANE Select	ENSP00000350283.3:p.Ser1715Cys
ENST00000471181.7:c.5206A>T	ENSP00000418960.2:p.Ser1736Cys
ENST00000644379.1:c.1530A>T
ENST00000352993.7:c.1717A>T	ENSP00000312236.5:p.Ser573Cys
ENST00000357654.7:c.5143A>T	ENSP00000350283.3:p.Ser1715Cys
ENST00000461221.5:c.*4926A>T	ENSP00000418548.1:n.*4926A>T
ENST00000468300.5:c.1831A>T	ENSP00000417148.1:p.Ser611Cys
ENST00000471181.6:c.5206A>T	ENSP00000418960.2:p.Ser1736Cys
ENST00000478531.5:c.1831A>T	ENSP00000420412.1:p.Ser611Cys
ENST00000484087.5:c.1456A>T	ENSP00000419481.1:p.Ser486Cys
ENST00000491747.6:c.1831A>T	ENSP00000420705.2:p.Ser611Cys
ENST00000493795.5:c.5002A>T	ENSP00000418775.1:p.Ser1668Cys
ENST00000493919.5:c.1693A>T	ENSP00000418819.1:p.Ser565Cys
ENST00000586385.5:c.73A>T	ENSP00000465818.1:p.Ser25Cys
ENST00000591534.5:c.616A>T	ENSP00000467329.1:p.Ser206Cys
ENST00000591849.5:c.-98-13693A>T	ENSP00000465347.1:n.-98-13693A>T
NM_007294.3:c.5143A>T , LRG_292t1:c.5143A>T	NP_009225.1:p.Ser1715Cys
NM_007297.3:c.5002A>T	NP_009228.2:p.Ser1668Cys
NM_007298.3:c.1831A>T	NP_009229.2:p.Ser611Cys
NM_007299.3:c.1831A>T	NP_009230.2:p.Ser611Cys
NM_007300.3:c.5206A>T	NP_009231.2:p.Ser1736Cys
NR_027676.1:n.5279A>T
NM_007294.4:c.5143A>T MANE Select	NP_009225.1:p.Ser1715Cys
NM_007297.4:c.5002A>T	NP_009228.2:p.Ser1668Cys
NM_007299.4:c.1831A>T	NP_009230.2:p.Ser611Cys
NM_007300.4:c.5206A>T	NP_009231.2:p.Ser1736Cys
NR_027676.2:n.5320A>T