Canonical Allele Identifier: CA10590905

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 868306
• ClinVar RCV Id: RCV001077184 ; RCV002348521
• dbSNP Id: rs2051198464
• gnomAD v4: 17-43051072-T-C
• MyVariant Identifiers: chr17:g.41203089T>C (hg19) ; chr17:g.43051072T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43051072T>C , CM000679.2:g.43051072T>C	GRCh38
NC_000017.10:g.41203089T>C , CM000679.1:g.41203089T>C	GRCh37
NC_000017.9:g.38456615T>C	NCBI36
NG_005905.2:g.166912A>G , LRG_292:g.166912A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5320A>G	ENSP00000417241.2:p.Met1774Val
ENST00000470026.6:c.5323A>G	ENSP00000419274.2:p.Met1775Val
ENST00000473961.6:c.5197A>G	ENSP00000420201.2:p.Met1733Val
ENST00000476777.6:c.5317A>G	ENSP00000417554.2:p.Met1773Val
ENST00000477152.6:c.5245A>G	ENSP00000419988.2:p.Met1749Val
ENST00000478531.6:c.2011A>G	ENSP00000420412.2:p.Met671Val
ENST00000489037.2:c.5245A>G	ENSP00000420781.2:p.Met1749Val
ENST00000493919.6:c.1873A>G	ENSP00000418819.2:p.Met625Val
ENST00000494123.6:c.5323A>G	ENSP00000419103.2:p.Met1775Val
ENST00000497488.2:c.4435A>G	ENSP00000418986.2:p.Met1479Val
ENST00000618469.2:c.5323A>G	ENSP00000478114.2:p.Met1775Val
ENST00000634433.2:c.5200A>G	ENSP00000489431.2:p.Met1734Val
ENST00000644379.2:c.5389A>G	ENSP00000496570.2:p.Met1797Val
ENST00000644555.2:c.1873A>G	ENSP00000494614.2:p.Met625Val
ENST00000652672.2:c.5182A>G	ENSP00000498906.2:p.Met1728Val
ENST00000484087.6:c.1885A>G	ENSP00000419481.2:p.Met629Val
ENST00000357654.9:c.5323A>G MANE Select	ENSP00000350283.3:p.Met1775Val
ENST00000471181.7:c.5386A>G	ENSP00000418960.2:p.Met1796Val
ENST00000644379.1:c.1710A>G
ENST00000352993.7:c.1897A>G	ENSP00000312236.5:p.Met633Val
ENST00000357654.7:c.5323A>G	ENSP00000350283.3:p.Met1775Val
ENST00000461221.5:c.*5106A>G	ENSP00000418548.1:n.*5106A>G
ENST00000468300.5:c.2011A>G	ENSP00000417148.1:p.Met671Val
ENST00000471181.6:c.5386A>G	ENSP00000418960.2:p.Met1796Val
ENST00000491747.6:c.2011A>G	ENSP00000420705.2:p.Met671Val
ENST00000493795.5:c.5182A>G	ENSP00000418775.1:p.Met1728Val
ENST00000586385.5:c.253A>G	ENSP00000465818.1:p.Met85Val
ENST00000591534.5:c.796A>G	ENSP00000467329.1:p.Met266Val
ENST00000591849.5:c.-98-882A>G	ENSP00000465347.1:n.-98-882A>G
NM_007294.3:c.5323A>G , LRG_292t1:c.5323A>G	NP_009225.1:p.Met1775Val
NM_007297.3:c.5182A>G	NP_009228.2:p.Met1728Val
NM_007298.3:c.2011A>G	NP_009229.2:p.Met671Val
NM_007299.3:c.2011A>G	NP_009230.2:p.Met671Val
NM_007300.3:c.5386A>G	NP_009231.2:p.Met1796Val
NR_027676.1:n.5459A>G
NM_007294.4:c.5323A>G MANE Select	NP_009225.1:p.Met1775Val
NM_007297.4:c.5182A>G	NP_009228.2:p.Met1728Val
NM_007299.4:c.2011A>G	NP_009230.2:p.Met671Val
NM_007300.4:c.5386A>G	NP_009231.2:p.Met1796Val
NR_027676.2:n.5500A>G