Canonical Allele Identifier: CA10591766

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 3226168
• ClinVar RCV Id: RCV004519403
• dbSNP Id: rs764015648
• MyVariant Identifiers: chr17:g.41223051G>C (hg19) ; chr17:g.43071034G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071034G>C , CM000679.2:g.43071034G>C	GRCh38
NC_000017.10:g.41223051G>C , CM000679.1:g.41223051G>C	GRCh37
NC_000017.9:g.38476577G>C	NCBI36
NG_005905.2:g.146950C>G , LRG_292:g.146950C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4877C>G	ENSP00000417241.2:p.Ala1626Gly
ENST00000470026.6:c.4880C>G	ENSP00000419274.2:p.Ala1627Gly
ENST00000473961.6:c.4754C>G	ENSP00000420201.2:p.Ala1585Gly
ENST00000476777.6:c.4874C>G	ENSP00000417554.2:p.Ala1625Gly
ENST00000477152.6:c.4802C>G	ENSP00000419988.2:p.Ala1601Gly
ENST00000478531.6:c.1568C>G	ENSP00000420412.2:p.Ala523Gly
ENST00000489037.2:c.4802C>G	ENSP00000420781.2:p.Ala1601Gly
ENST00000493919.6:c.1430C>G	ENSP00000418819.2:p.Ala477Gly
ENST00000494123.6:c.4880C>G	ENSP00000419103.2:p.Ala1627Gly
ENST00000497488.2:c.3992C>G	ENSP00000418986.2:p.Ala1331Gly
ENST00000618469.2:c.4880C>G	ENSP00000478114.2:p.Ala1627Gly
ENST00000634433.2:c.4757C>G	ENSP00000489431.2:p.Ala1586Gly
ENST00000644379.2:c.4946C>G	ENSP00000496570.2:p.Ala1649Gly
ENST00000644555.2:c.1430C>G	ENSP00000494614.2:p.Ala477Gly
ENST00000652672.2:c.4739C>G	ENSP00000498906.2:p.Ala1580Gly
ENST00000484087.6:c.1442C>G	ENSP00000419481.2:p.Ala481Gly
ENST00000700182.1:c.1487C>G	ENSP00000514849.1:p.Ala496Gly
ENST00000357654.9:c.4880C>G MANE Select	ENSP00000350283.3:p.Ala1627Gly
ENST00000471181.7:c.4943C>G	ENSP00000418960.2:p.Ala1648Gly
ENST00000644379.1:c.1267C>G
ENST00000352993.7:c.1454C>G	ENSP00000312236.5:p.Ala485Gly
ENST00000357654.7:c.4880C>G	ENSP00000350283.3:p.Ala1627Gly
ENST00000461221.5:c.*4663C>G	ENSP00000418548.1:n.*4663C>G
ENST00000468300.5:c.1568C>G	ENSP00000417148.1:p.Ala523Gly
ENST00000471181.6:c.4943C>G	ENSP00000418960.2:p.Ala1648Gly
ENST00000472490.1:n.33C>G
ENST00000478531.5:c.1568C>G	ENSP00000420412.1:p.Ala523Gly
ENST00000484087.5:c.1193C>G	ENSP00000419481.1:p.Ala398Gly
ENST00000491747.6:c.1568C>G	ENSP00000420705.2:p.Ala523Gly
ENST00000493795.5:c.4739C>G	ENSP00000418775.1:p.Ala1580Gly
ENST00000493919.5:c.1430C>G	ENSP00000418819.1:p.Ala477Gly
ENST00000586385.5:c.5-7083C>G	ENSP00000465818.1:n.5-7083C>G
ENST00000591534.5:c.353C>G	ENSP00000467329.1:p.Ala118Gly
ENST00000591849.5:c.-98-20844C>G	ENSP00000465347.1:n.-98-20844C>G
NM_007294.3:c.4880C>G , LRG_292t1:c.4880C>G	NP_009225.1:p.Ala1627Gly
NM_007297.3:c.4739C>G	NP_009228.2:p.Ala1580Gly
NM_007298.3:c.1568C>G	NP_009229.2:p.Ala523Gly
NM_007299.3:c.1568C>G	NP_009230.2:p.Ala523Gly
NM_007300.3:c.4943C>G	NP_009231.2:p.Ala1648Gly
NR_027676.1:n.5016C>G
NM_007294.4:c.4880C>G MANE Select	NP_009225.1:p.Ala1627Gly
NM_007297.4:c.4739C>G	NP_009228.2:p.Ala1580Gly
NM_007299.4:c.1568C>G	NP_009230.2:p.Ala523Gly
NM_007300.4:c.4943C>G	NP_009231.2:p.Ala1648Gly
NR_027676.2:n.5057C>G