Canonical Allele Identifier: CA003271

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 142424
• ClinVar RCV Id: RCV000131529 ; RCV000637366 ; RCV000486773 ; RCV001077662
• dbSNP Id: rs587782456
• gnomAD v4: 17-43063879-T-C
• MyVariant Identifiers: chr17:g.41215896T>C (hg19) ; chr17:g.43063879T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063879T>C , CM000679.2:g.43063879T>C	GRCh38
NC_000017.10:g.41215896T>C , CM000679.1:g.41215896T>C	GRCh37
NC_000017.9:g.38469422T>C	NCBI36
NG_005905.2:g.154105A>G , LRG_292:g.154105A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5144A>G	ENSP00000417241.2:p.Tyr1715Cys
ENST00000470026.6:c.5147A>G	ENSP00000419274.2:p.Tyr1716Cys
ENST00000473961.6:c.5021A>G	ENSP00000420201.2:p.Tyr1674Cys
ENST00000476777.6:c.5141A>G	ENSP00000417554.2:p.Tyr1714Cys
ENST00000477152.6:c.5069A>G	ENSP00000419988.2:p.Tyr1690Cys
ENST00000478531.6:c.1835A>G	ENSP00000420412.2:p.Tyr612Cys
ENST00000489037.2:c.5069A>G	ENSP00000420781.2:p.Tyr1690Cys
ENST00000493919.6:c.1697A>G	ENSP00000418819.2:p.Tyr566Cys
ENST00000494123.6:c.5147A>G	ENSP00000419103.2:p.Tyr1716Cys
ENST00000497488.2:c.4259A>G	ENSP00000418986.2:p.Tyr1420Cys
ENST00000618469.2:c.5147A>G	ENSP00000478114.2:p.Tyr1716Cys
ENST00000634433.2:c.5024A>G	ENSP00000489431.2:p.Tyr1675Cys
ENST00000644379.2:c.5213A>G	ENSP00000496570.2:p.Tyr1738Cys
ENST00000644555.2:c.1697A>G	ENSP00000494614.2:p.Tyr566Cys
ENST00000652672.2:c.5006A>G	ENSP00000498906.2:p.Tyr1669Cys
ENST00000484087.6:c.1709A>G	ENSP00000419481.2:p.Tyr570Cys
ENST00000357654.9:c.5147A>G MANE Select	ENSP00000350283.3:p.Tyr1716Cys
ENST00000471181.7:c.5210A>G	ENSP00000418960.2:p.Tyr1737Cys
ENST00000644379.1:c.1534A>G
ENST00000352993.7:c.1721A>G	ENSP00000312236.5:p.Tyr574Cys
ENST00000357654.7:c.5147A>G	ENSP00000350283.3:p.Tyr1716Cys
ENST00000461221.5:c.*4930A>G	ENSP00000418548.1:n.*4930A>G
ENST00000468300.5:c.1835A>G	ENSP00000417148.1:p.Tyr612Cys
ENST00000471181.6:c.5210A>G	ENSP00000418960.2:p.Tyr1737Cys
ENST00000478531.5:c.1835A>G	ENSP00000420412.1:p.Tyr612Cys
ENST00000484087.5:c.1460A>G	ENSP00000419481.1:p.Tyr487Cys
ENST00000491747.6:c.1835A>G	ENSP00000420705.2:p.Tyr612Cys
ENST00000493795.5:c.5006A>G	ENSP00000418775.1:p.Tyr1669Cys
ENST00000493919.5:c.1697A>G	ENSP00000418819.1:p.Tyr566Cys
ENST00000586385.5:c.77A>G	ENSP00000465818.1:p.Tyr26Cys
ENST00000591534.5:c.620A>G	ENSP00000467329.1:p.Tyr207Cys
ENST00000591849.5:c.-98-13689A>G	ENSP00000465347.1:n.-98-13689A>G
NM_007294.3:c.5147A>G , LRG_292t1:c.5147A>G	NP_009225.1:p.Tyr1716Cys
NM_007297.3:c.5006A>G	NP_009228.2:p.Tyr1669Cys
NM_007298.3:c.1835A>G	NP_009229.2:p.Tyr612Cys
NM_007299.3:c.1835A>G	NP_009230.2:p.Tyr612Cys
NM_007300.3:c.5210A>G	NP_009231.2:p.Tyr1737Cys
NR_027676.1:n.5283A>G
NM_007294.4:c.5147A>G MANE Select	NP_009225.1:p.Tyr1716Cys
NM_007297.4:c.5006A>G	NP_009228.2:p.Tyr1669Cys
NM_007299.4:c.1835A>G	NP_009230.2:p.Tyr612Cys
NM_007300.4:c.5210A>G	NP_009231.2:p.Tyr1737Cys
NR_027676.2:n.5324A>G