Canonical Allele Identifier: CA10592768

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 433713
• ClinVar RCV Id: RCV001357261
• dbSNP Id: rs1567779859
• MyVariant Identifiers: chr17:g.41228604T>C (hg19) ; chr17:g.43076587T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076587T>C , CM000679.2:g.43076587T>C	GRCh38
NC_000017.10:g.41228604T>C , CM000679.1:g.41228604T>C	GRCh37
NC_000017.9:g.38482130T>C	NCBI36
NG_005905.2:g.141397A>G , LRG_292:g.141397A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4382A>G	ENSP00000417241.2:p.Glu1461Gly
ENST00000470026.6:c.4385A>G	ENSP00000419274.2:p.Glu1462Gly
ENST00000473961.6:c.4259A>G	ENSP00000420201.2:p.Glu1420Gly
ENST00000476777.6:c.4379A>G	ENSP00000417554.2:p.Glu1460Gly
ENST00000477152.6:c.4307A>G	ENSP00000419988.2:p.Glu1436Gly
ENST00000478531.6:c.1073A>G	ENSP00000420412.2:p.Glu358Gly
ENST00000489037.2:c.4307A>G	ENSP00000420781.2:p.Glu1436Gly
ENST00000493919.6:c.935A>G	ENSP00000418819.2:p.Glu312Gly
ENST00000494123.6:c.4385A>G	ENSP00000419103.2:p.Glu1462Gly
ENST00000497488.2:c.3497A>G	ENSP00000418986.2:p.Glu1166Gly
ENST00000618469.2:c.4385A>G	ENSP00000478114.2:p.Glu1462Gly
ENST00000634433.2:c.4262A>G	ENSP00000489431.2:p.Glu1421Gly
ENST00000644379.2:c.4451A>G	ENSP00000496570.2:p.Glu1484Gly
ENST00000644555.2:c.935A>G	ENSP00000494614.2:p.Glu312Gly
ENST00000652672.2:c.4244A>G	ENSP00000498906.2:p.Glu1415Gly
ENST00000484087.6:c.947A>G	ENSP00000419481.2:p.Glu316Gly
ENST00000700182.1:c.992A>G	ENSP00000514849.1:p.Glu331Gly
ENST00000357654.9:c.4385A>G MANE Select	ENSP00000350283.3:p.Glu1462Gly
ENST00000471181.7:c.4448A>G	ENSP00000418960.2:p.Glu1483Gly
ENST00000644379.1:c.772A>G
ENST00000352993.7:c.959A>G	ENSP00000312236.5:p.Glu320Gly
ENST00000357654.7:c.4385A>G	ENSP00000350283.3:p.Glu1462Gly
ENST00000461221.5:c.*4168A>G	ENSP00000418548.1:n.*4168A>G
ENST00000461574.1:c.676A>G
ENST00000468300.5:c.1073A>G	ENSP00000417148.1:p.Glu358Gly
ENST00000471181.6:c.4448A>G	ENSP00000418960.2:p.Glu1483Gly
ENST00000478531.5:c.1073A>G	ENSP00000420412.1:p.Glu358Gly
ENST00000484087.5:c.698A>G	ENSP00000419481.1:p.Glu233Gly
ENST00000487825.5:c.701A>G	ENSP00000418212.1:p.Glu234Gly
ENST00000491747.6:c.1073A>G	ENSP00000420705.2:p.Glu358Gly
ENST00000493795.5:c.4244A>G	ENSP00000418775.1:p.Glu1415Gly
ENST00000493919.5:c.935A>G	ENSP00000418819.1:p.Glu312Gly
ENST00000586385.5:c.5-12636A>G	ENSP00000465818.1:n.5-12636A>G
ENST00000591534.5:c.-43-2066A>G	ENSP00000467329.1:n.-43-2066A>G
ENST00000591849.5:c.-98-26397A>G	ENSP00000465347.1:n.-98-26397A>G
ENST00000621897.1:n.276A>G
NM_007294.3:c.4385A>G , LRG_292t1:c.4385A>G	NP_009225.1:p.Glu1462Gly
NM_007297.3:c.4244A>G	NP_009228.2:p.Glu1415Gly
NM_007298.3:c.1073A>G	NP_009229.2:p.Glu358Gly
NM_007299.3:c.1073A>G	NP_009230.2:p.Glu358Gly
NM_007300.3:c.4448A>G	NP_009231.2:p.Glu1483Gly
NR_027676.1:n.4521A>G
NM_007294.4:c.4385A>G MANE Select	NP_009225.1:p.Glu1462Gly
NM_007297.4:c.4244A>G	NP_009228.2:p.Glu1415Gly
NM_007299.4:c.1073A>G	NP_009230.2:p.Glu358Gly
NM_007300.4:c.4448A>G	NP_009231.2:p.Glu1483Gly
NR_027676.2:n.4562A>G