Canonical Allele Identifier: CA10590982

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 867341
• ClinVar RCV Id: RCV001076010
• dbSNP Id: rs1567760717
• MyVariant Identifiers: chr17:g.41203131A>C (hg19) ; chr17:g.43051114A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43051114A>C , CM000679.2:g.43051114A>C	GRCh38
NC_000017.10:g.41203131A>C , CM000679.1:g.41203131A>C	GRCh37
NC_000017.9:g.38456657A>C	NCBI36
NG_005905.2:g.166870T>G , LRG_292:g.166870T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5278T>G	ENSP00000417241.2:p.Phe1760Val
ENST00000470026.6:c.5281T>G	ENSP00000419274.2:p.Phe1761Val
ENST00000473961.6:c.5155T>G	ENSP00000420201.2:p.Phe1719Val
ENST00000476777.6:c.5275T>G	ENSP00000417554.2:p.Phe1759Val
ENST00000477152.6:c.5203T>G	ENSP00000419988.2:p.Phe1735Val
ENST00000478531.6:c.1969T>G	ENSP00000420412.2:p.Phe657Val
ENST00000489037.2:c.5203T>G	ENSP00000420781.2:p.Phe1735Val
ENST00000493919.6:c.1831T>G	ENSP00000418819.2:p.Phe611Val
ENST00000494123.6:c.5281T>G	ENSP00000419103.2:p.Phe1761Val
ENST00000497488.2:c.4393T>G	ENSP00000418986.2:p.Phe1465Val
ENST00000618469.2:c.5281T>G	ENSP00000478114.2:p.Phe1761Val
ENST00000634433.2:c.5158T>G	ENSP00000489431.2:p.Phe1720Val
ENST00000644379.2:c.5347T>G	ENSP00000496570.2:p.Phe1783Val
ENST00000644555.2:c.1831T>G	ENSP00000494614.2:p.Phe611Val
ENST00000652672.2:c.5140T>G	ENSP00000498906.2:p.Phe1714Val
ENST00000484087.6:c.1843T>G	ENSP00000419481.2:p.Phe615Val
ENST00000357654.9:c.5281T>G MANE Select	ENSP00000350283.3:p.Phe1761Val
ENST00000471181.7:c.5344T>G	ENSP00000418960.2:p.Phe1782Val
ENST00000644379.1:c.1668T>G
ENST00000352993.7:c.1855T>G	ENSP00000312236.5:p.Phe619Val
ENST00000357654.7:c.5281T>G	ENSP00000350283.3:p.Phe1761Val
ENST00000461221.5:c.*5064T>G	ENSP00000418548.1:n.*5064T>G
ENST00000468300.5:c.1969T>G	ENSP00000417148.1:p.Phe657Val
ENST00000471181.6:c.5344T>G	ENSP00000418960.2:p.Phe1782Val
ENST00000491747.6:c.1969T>G	ENSP00000420705.2:p.Phe657Val
ENST00000493795.5:c.5140T>G	ENSP00000418775.1:p.Phe1714Val
ENST00000586385.5:c.211T>G	ENSP00000465818.1:p.Phe71Val
ENST00000591534.5:c.754T>G	ENSP00000467329.1:p.Phe252Val
ENST00000591849.5:c.-98-924T>G	ENSP00000465347.1:n.-98-924T>G
NM_007294.3:c.5281T>G , LRG_292t1:c.5281T>G	NP_009225.1:p.Phe1761Val
NM_007297.3:c.5140T>G	NP_009228.2:p.Phe1714Val
NM_007298.3:c.1969T>G	NP_009229.2:p.Phe657Val
NM_007299.3:c.1969T>G	NP_009230.2:p.Phe657Val
NM_007300.3:c.5344T>G	NP_009231.2:p.Phe1782Val
NR_027676.1:n.5417T>G
NM_007294.4:c.5281T>G MANE Select	NP_009225.1:p.Phe1761Val
NM_007297.4:c.5140T>G	NP_009228.2:p.Phe1714Val
NM_007299.4:c.1969T>G	NP_009230.2:p.Phe657Val
NM_007300.4:c.5344T>G	NP_009231.2:p.Phe1782Val
NR_027676.2:n.5458T>G