Canonical Allele Identifier: CA053410

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 927806
• ClinVar RCV Id: RCV001191305
• dbSNP Id: rs764015648
• ExAC: 17:41223051 G / A
• gnomAD v2: 17-41223051-G-A
• gnomAD v4: 17-43071034-G-A
• MyVariant Identifiers: chr17:g.41223051G>A (hg19) ; chr17:g.43071034G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4877C>T	ENSP00000417241.2:p.Ala1626Val
ENST00000470026.6:c.4880C>T	ENSP00000419274.2:p.Ala1627Val
ENST00000473961.6:c.4754C>T	ENSP00000420201.2:p.Ala1585Val
ENST00000476777.6:c.4874C>T	ENSP00000417554.2:p.Ala1625Val
ENST00000477152.6:c.4802C>T	ENSP00000419988.2:p.Ala1601Val
ENST00000478531.6:c.1568C>T	ENSP00000420412.2:p.Ala523Val
ENST00000489037.2:c.4802C>T	ENSP00000420781.2:p.Ala1601Val
ENST00000493919.6:c.1430C>T	ENSP00000418819.2:p.Ala477Val
ENST00000494123.6:c.4880C>T	ENSP00000419103.2:p.Ala1627Val
ENST00000497488.2:c.3992C>T	ENSP00000418986.2:p.Ala1331Val
ENST00000618469.2:c.4880C>T	ENSP00000478114.2:p.Ala1627Val
ENST00000634433.2:c.4757C>T	ENSP00000489431.2:p.Ala1586Val
ENST00000644379.2:c.4946C>T	ENSP00000496570.2:p.Ala1649Val
ENST00000644555.2:c.1430C>T	ENSP00000494614.2:p.Ala477Val
ENST00000652672.2:c.4739C>T	ENSP00000498906.2:p.Ala1580Val
ENST00000484087.6:c.1442C>T	ENSP00000419481.2:p.Ala481Val
ENST00000700182.1:c.1487C>T	ENSP00000514849.1:p.Ala496Val
ENST00000357654.9:c.4880C>T MANE Select	ENSP00000350283.3:p.Ala1627Val
ENST00000471181.7:c.4943C>T	ENSP00000418960.2:p.Ala1648Val
ENST00000644379.1:c.1267C>T
ENST00000352993.7:c.1454C>T	ENSP00000312236.5:p.Ala485Val
ENST00000357654.7:c.4880C>T	ENSP00000350283.3:p.Ala1627Val
ENST00000461221.5:c.*4663C>T	ENSP00000418548.1:n.*4663C>T
ENST00000468300.5:c.1568C>T	ENSP00000417148.1:p.Ala523Val
ENST00000471181.6:c.4943C>T	ENSP00000418960.2:p.Ala1648Val
ENST00000472490.1:n.33C>T
ENST00000478531.5:c.1568C>T	ENSP00000420412.1:p.Ala523Val
ENST00000484087.5:c.1193C>T	ENSP00000419481.1:p.Ala398Val
ENST00000491747.6:c.1568C>T	ENSP00000420705.2:p.Ala523Val
ENST00000493795.5:c.4739C>T	ENSP00000418775.1:p.Ala1580Val
ENST00000493919.5:c.1430C>T	ENSP00000418819.1:p.Ala477Val
ENST00000586385.5:c.5-7083C>T	ENSP00000465818.1:n.5-7083C>T
ENST00000591534.5:c.353C>T	ENSP00000467329.1:p.Ala118Val
ENST00000591849.5:c.-98-20844C>T	ENSP00000465347.1:n.-98-20844C>T
NM_007294.3:c.4880C>T , LRG_292t1:c.4880C>T	NP_009225.1:p.Ala1627Val
NM_007297.3:c.4739C>T	NP_009228.2:p.Ala1580Val
NM_007298.3:c.1568C>T	NP_009229.2:p.Ala523Val
NM_007299.3:c.1568C>T	NP_009230.2:p.Ala523Val
NM_007300.3:c.4943C>T	NP_009231.2:p.Ala1648Val
NR_027676.1:n.5016C>T
NM_007294.4:c.4880C>T MANE Select	NP_009225.1:p.Ala1627Val
NM_007297.4:c.4739C>T	NP_009228.2:p.Ala1580Val
NM_007299.4:c.1568C>T	NP_009230.2:p.Ala523Val
NM_007300.4:c.4943C>T	NP_009231.2:p.Ala1648Val
NR_027676.2:n.5057C>T