Canonical Allele Identifier: CA003264

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55414
• ClinVar RCV Id: RCV000112505 ; RCV001383430 ; RCV002267824
• dbSNP Id: rs80357222
• MyVariant Identifiers: chr17:g.41215900T>G (hg19) ; chr17:g.43063883T>G (hg38)
• PubMed: PMID:21990134

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5140A>C	ENSP00000417241.2:p.Ser1714Arg
ENST00000470026.6:c.5143A>C	ENSP00000419274.2:p.Ser1715Arg
ENST00000473961.6:c.5017A>C	ENSP00000420201.2:p.Ser1673Arg
ENST00000476777.6:c.5137A>C	ENSP00000417554.2:p.Ser1713Arg
ENST00000477152.6:c.5065A>C	ENSP00000419988.2:p.Ser1689Arg
ENST00000478531.6:c.1831A>C	ENSP00000420412.2:p.Ser611Arg
ENST00000489037.2:c.5065A>C	ENSP00000420781.2:p.Ser1689Arg
ENST00000493919.6:c.1693A>C	ENSP00000418819.2:p.Ser565Arg
ENST00000494123.6:c.5143A>C	ENSP00000419103.2:p.Ser1715Arg
ENST00000497488.2:c.4255A>C	ENSP00000418986.2:p.Ser1419Arg
ENST00000618469.2:c.5143A>C	ENSP00000478114.2:p.Ser1715Arg
ENST00000634433.2:c.5020A>C	ENSP00000489431.2:p.Ser1674Arg
ENST00000644379.2:c.5209A>C	ENSP00000496570.2:p.Ser1737Arg
ENST00000644555.2:c.1693A>C	ENSP00000494614.2:p.Ser565Arg
ENST00000652672.2:c.5002A>C	ENSP00000498906.2:p.Ser1668Arg
ENST00000484087.6:c.1705A>C	ENSP00000419481.2:p.Ser569Arg
ENST00000357654.9:c.5143A>C MANE Select	ENSP00000350283.3:p.Ser1715Arg
ENST00000471181.7:c.5206A>C	ENSP00000418960.2:p.Ser1736Arg
ENST00000644379.1:c.1530A>C
ENST00000352993.7:c.1717A>C	ENSP00000312236.5:p.Ser573Arg
ENST00000357654.7:c.5143A>C	ENSP00000350283.3:p.Ser1715Arg
ENST00000461221.5:c.*4926A>C	ENSP00000418548.1:n.*4926A>C
ENST00000468300.5:c.1831A>C	ENSP00000417148.1:p.Ser611Arg
ENST00000471181.6:c.5206A>C	ENSP00000418960.2:p.Ser1736Arg
ENST00000478531.5:c.1831A>C	ENSP00000420412.1:p.Ser611Arg
ENST00000484087.5:c.1456A>C	ENSP00000419481.1:p.Ser486Arg
ENST00000491747.6:c.1831A>C	ENSP00000420705.2:p.Ser611Arg
ENST00000493795.5:c.5002A>C	ENSP00000418775.1:p.Ser1668Arg
ENST00000493919.5:c.1693A>C	ENSP00000418819.1:p.Ser565Arg
ENST00000586385.5:c.73A>C	ENSP00000465818.1:p.Ser25Arg
ENST00000591534.5:c.616A>C	ENSP00000467329.1:p.Ser206Arg
ENST00000591849.5:c.-98-13693A>C	ENSP00000465347.1:n.-98-13693A>C
NM_007294.3:c.5143A>C , LRG_292t1:c.5143A>C	NP_009225.1:p.Ser1715Arg
NM_007297.3:c.5002A>C	NP_009228.2:p.Ser1668Arg
NM_007298.3:c.1831A>C	NP_009229.2:p.Ser611Arg
NM_007299.3:c.1831A>C	NP_009230.2:p.Ser611Arg
NM_007300.3:c.5206A>C	NP_009231.2:p.Ser1736Arg
NR_027676.1:n.5279A>C
NM_007294.4:c.5143A>C MANE Select	NP_009225.1:p.Ser1715Arg
NM_007297.4:c.5002A>C	NP_009228.2:p.Ser1668Arg
NM_007299.4:c.1831A>C	NP_009230.2:p.Ser611Arg
NM_007300.4:c.5206A>C	NP_009231.2:p.Ser1736Arg
NR_027676.2:n.5320A>C