Canonical Allele Identifier: CA10591404

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 868572
• ClinVar RCV Id: RCV001077498
• dbSNP Id: rs397509218
• MyVariant Identifiers: chr17:g.41219641A>C (hg19) ; chr17:g.43067624A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067624A>C , CM000679.2:g.43067624A>C	GRCh38
NC_000017.10:g.41219641A>C , CM000679.1:g.41219641A>C	GRCh37
NC_000017.9:g.38473167A>C	NCBI36
NG_005905.2:g.150360T>G , LRG_292:g.150360T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5055T>G	ENSP00000417241.2:p.His1685Gln
ENST00000470026.6:c.5058T>G	ENSP00000419274.2:p.His1686Gln
ENST00000473961.6:c.4932T>G	ENSP00000420201.2:p.His1644Gln
ENST00000476777.6:c.5052T>G	ENSP00000417554.2:p.His1684Gln
ENST00000477152.6:c.4980T>G	ENSP00000419988.2:p.His1660Gln
ENST00000478531.6:c.1746T>G	ENSP00000420412.2:p.His582Gln
ENST00000489037.2:c.4980T>G	ENSP00000420781.2:p.His1660Gln
ENST00000493919.6:c.1608T>G	ENSP00000418819.2:p.His536Gln
ENST00000494123.6:c.5058T>G	ENSP00000419103.2:p.His1686Gln
ENST00000497488.2:c.4170T>G	ENSP00000418986.2:p.His1390Gln
ENST00000618469.2:c.5058T>G	ENSP00000478114.2:p.His1686Gln
ENST00000634433.2:c.4935T>G	ENSP00000489431.2:p.His1645Gln
ENST00000644379.2:c.5124T>G	ENSP00000496570.2:p.His1708Gln
ENST00000644555.2:c.1608T>G	ENSP00000494614.2:p.His536Gln
ENST00000652672.2:c.4917T>G	ENSP00000498906.2:p.His1639Gln
ENST00000484087.6:c.1620T>G	ENSP00000419481.2:p.His540Gln
ENST00000357654.9:c.5058T>G MANE Select	ENSP00000350283.3:p.His1686Gln
ENST00000471181.7:c.5121T>G	ENSP00000418960.2:p.His1707Gln
ENST00000644379.1:c.1445T>G
ENST00000352993.7:c.1632T>G	ENSP00000312236.5:p.His544Gln
ENST00000357654.7:c.5058T>G	ENSP00000350283.3:p.His1686Gln
ENST00000461221.5:c.*4841T>G	ENSP00000418548.1:n.*4841T>G
ENST00000468300.5:c.1746T>G	ENSP00000417148.1:p.His582Gln
ENST00000471181.6:c.5121T>G	ENSP00000418960.2:p.His1707Gln
ENST00000472490.1:n.211T>G
ENST00000478531.5:c.1746T>G	ENSP00000420412.1:p.His582Gln
ENST00000484087.5:c.1371T>G	ENSP00000419481.1:p.His457Gln
ENST00000491747.6:c.1746T>G	ENSP00000420705.2:p.His582Gln
ENST00000493795.5:c.4917T>G	ENSP00000418775.1:p.His1639Gln
ENST00000493919.5:c.1608T>G	ENSP00000418819.1:p.His536Gln
ENST00000586385.5:c.5-3673T>G	ENSP00000465818.1:n.5-3673T>G
ENST00000591534.5:c.531T>G	ENSP00000467329.1:p.His177Gln
ENST00000591849.5:c.-98-17434T>G	ENSP00000465347.1:n.-98-17434T>G
NM_007294.3:c.5058T>G , LRG_292t1:c.5058T>G	NP_009225.1:p.His1686Gln
NM_007297.3:c.4917T>G	NP_009228.2:p.His1639Gln
NM_007298.3:c.1746T>G	NP_009229.2:p.His582Gln
NM_007299.3:c.1746T>G	NP_009230.2:p.His582Gln
NM_007300.3:c.5121T>G	NP_009231.2:p.His1707Gln
NR_027676.1:n.5194T>G
NM_007294.4:c.5058T>G MANE Select	NP_009225.1:p.His1686Gln
NM_007297.4:c.4917T>G	NP_009228.2:p.His1639Gln
NM_007299.4:c.1746T>G	NP_009230.2:p.His582Gln
NM_007300.4:c.5121T>G	NP_009231.2:p.His1707Gln
NR_027676.2:n.5235T>G