Canonical Allele Identifier: CA10591477

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 865541
• ClinVar RCV Id: RCV001072981
• dbSNP Id: rs2052178742
• MyVariant Identifiers: chr17:g.41219680G>C (hg19) ; chr17:g.43067663G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067663G>C , CM000679.2:g.43067663G>C	GRCh38
NC_000017.10:g.41219680G>C , CM000679.1:g.41219680G>C	GRCh37
NC_000017.9:g.38473206G>C	NCBI36
NG_005905.2:g.150321C>G , LRG_292:g.150321C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5016C>G	ENSP00000417241.2:p.His1672Gln
ENST00000470026.6:c.5019C>G	ENSP00000419274.2:p.His1673Gln
ENST00000473961.6:c.4893C>G	ENSP00000420201.2:p.His1631Gln
ENST00000476777.6:c.5013C>G	ENSP00000417554.2:p.His1671Gln
ENST00000477152.6:c.4941C>G	ENSP00000419988.2:p.His1647Gln
ENST00000478531.6:c.1707C>G	ENSP00000420412.2:p.His569Gln
ENST00000489037.2:c.4941C>G	ENSP00000420781.2:p.His1647Gln
ENST00000493919.6:c.1569C>G	ENSP00000418819.2:p.His523Gln
ENST00000494123.6:c.5019C>G	ENSP00000419103.2:p.His1673Gln
ENST00000497488.2:c.4131C>G	ENSP00000418986.2:p.His1377Gln
ENST00000618469.2:c.5019C>G	ENSP00000478114.2:p.His1673Gln
ENST00000634433.2:c.4896C>G	ENSP00000489431.2:p.His1632Gln
ENST00000644379.2:c.5085C>G	ENSP00000496570.2:p.His1695Gln
ENST00000644555.2:c.1569C>G	ENSP00000494614.2:p.His523Gln
ENST00000652672.2:c.4878C>G	ENSP00000498906.2:p.His1626Gln
ENST00000484087.6:c.1581C>G	ENSP00000419481.2:p.His527Gln
ENST00000357654.9:c.5019C>G MANE Select	ENSP00000350283.3:p.His1673Gln
ENST00000471181.7:c.5082C>G	ENSP00000418960.2:p.His1694Gln
ENST00000644379.1:c.1406C>G
ENST00000352993.7:c.1593C>G	ENSP00000312236.5:p.His531Gln
ENST00000357654.7:c.5019C>G	ENSP00000350283.3:p.His1673Gln
ENST00000461221.5:c.*4802C>G	ENSP00000418548.1:n.*4802C>G
ENST00000468300.5:c.1707C>G	ENSP00000417148.1:p.His569Gln
ENST00000471181.6:c.5082C>G	ENSP00000418960.2:p.His1694Gln
ENST00000472490.1:n.172C>G
ENST00000478531.5:c.1707C>G	ENSP00000420412.1:p.His569Gln
ENST00000484087.5:c.1332C>G	ENSP00000419481.1:p.His444Gln
ENST00000491747.6:c.1707C>G	ENSP00000420705.2:p.His569Gln
ENST00000493795.5:c.4878C>G	ENSP00000418775.1:p.His1626Gln
ENST00000493919.5:c.1569C>G	ENSP00000418819.1:p.His523Gln
ENST00000586385.5:c.5-3712C>G	ENSP00000465818.1:n.5-3712C>G
ENST00000591534.5:c.492C>G	ENSP00000467329.1:p.His164Gln
ENST00000591849.5:c.-98-17473C>G	ENSP00000465347.1:n.-98-17473C>G
NM_007294.3:c.5019C>G , LRG_292t1:c.5019C>G	NP_009225.1:p.His1673Gln
NM_007297.3:c.4878C>G	NP_009228.2:p.His1626Gln
NM_007298.3:c.1707C>G	NP_009229.2:p.His569Gln
NM_007299.3:c.1707C>G	NP_009230.2:p.His569Gln
NM_007300.3:c.5082C>G	NP_009231.2:p.His1694Gln
NR_027676.1:n.5155C>G
NM_007294.4:c.5019C>G MANE Select	NP_009225.1:p.His1673Gln
NM_007297.4:c.4878C>G	NP_009228.2:p.His1626Gln
NM_007299.4:c.1707C>G	NP_009230.2:p.His569Gln
NM_007300.4:c.5082C>G	NP_009231.2:p.His1694Gln
NR_027676.2:n.5196C>G