Canonical Allele Identifier: CA10593229

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 491073
• ClinVar RCV Id: RCV000582944 ; RCV000759537 ; RCV001360983 ; RCV004001314
• dbSNP Id: rs370999077
• gnomAD v3: 17-43082515-C-T
• gnomAD v4: 17-43082515-C-T
• MyVariant Identifiers: chr17:g.41234532C>T (hg19) ; chr17:g.43082515C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082515C>T , CM000679.2:g.43082515C>T	GRCh38
NC_000017.10:g.41234532C>T , CM000679.1:g.41234532C>T	GRCh37
NC_000017.9:g.38488058C>T	NCBI36
NG_005905.2:g.135469G>A , LRG_292:g.135469G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4246G>A	ENSP00000417241.2:p.Ala1416Thr
ENST00000470026.6:c.4246G>A	ENSP00000419274.2:p.Ala1416Thr
ENST00000473961.6:c.4120G>A	ENSP00000420201.2:p.Ala1374Thr
ENST00000476777.6:c.4240G>A	ENSP00000417554.2:p.Ala1414Thr
ENST00000477152.6:c.4168G>A	ENSP00000419988.2:p.Ala1390Thr
ENST00000478531.6:c.934G>A	ENSP00000420412.2:p.Ala312Thr
ENST00000489037.2:c.4168G>A	ENSP00000420781.2:p.Ala1390Thr
ENST00000493919.6:c.796G>A	ENSP00000418819.2:p.Ala266Thr
ENST00000494123.6:c.4246G>A	ENSP00000419103.2:p.Ala1416Thr
ENST00000497488.2:c.3358G>A	ENSP00000418986.2:p.Ala1120Thr
ENST00000618469.2:c.4246G>A	ENSP00000478114.2:p.Ala1416Thr
ENST00000634433.2:c.4123G>A	ENSP00000489431.2:p.Ala1375Thr
ENST00000644379.2:c.4246G>A	ENSP00000496570.2:p.Ala1416Thr
ENST00000644555.2:c.796G>A	ENSP00000494614.2:p.Ala266Thr
ENST00000652672.2:c.4105G>A	ENSP00000498906.2:p.Ala1369Thr
ENST00000484087.6:c.811G>A	ENSP00000419481.2:p.Ala271Thr
ENST00000700182.1:c.856G>A	ENSP00000514849.1:p.Ala286Thr
ENST00000357654.9:c.4246G>A MANE Select	ENSP00000350283.3:p.Ala1416Thr
ENST00000471181.7:c.4246G>A	ENSP00000418960.2:p.Ala1416Thr
ENST00000644379.1:c.567G>A
ENST00000352993.7:c.820G>A	ENSP00000312236.5:p.Ala274Thr
ENST00000357654.7:c.4246G>A	ENSP00000350283.3:p.Ala1416Thr
ENST00000461221.5:c.*4029G>A	ENSP00000418548.1:n.*4029G>A
ENST00000461574.1:c.540G>A
ENST00000468300.5:c.937G>A	ENSP00000417148.1:p.Ala313Thr
ENST00000471181.6:c.4246G>A	ENSP00000418960.2:p.Ala1416Thr
ENST00000478531.5:c.934G>A	ENSP00000420412.1:p.Ala312Thr
ENST00000484087.5:c.559G>A	ENSP00000419481.1:p.Ala187Thr
ENST00000487825.5:c.562G>A	ENSP00000418212.1:p.Ala188Thr
ENST00000491747.6:c.937G>A	ENSP00000420705.2:p.Ala313Thr
ENST00000493795.5:c.4105G>A	ENSP00000418775.1:p.Ala1369Thr
ENST00000493919.5:c.796G>A	ENSP00000418819.1:p.Ala266Thr
ENST00000586385.5:c.5-18564G>A	ENSP00000465818.1:n.5-18564G>A
ENST00000591534.5:c.-43-7994G>A	ENSP00000467329.1:n.-43-7994G>A
ENST00000591849.5:c.-98-32325G>A	ENSP00000465347.1:n.-98-32325G>A
ENST00000621897.1:n.140G>A
NM_007294.3:c.4246G>A , LRG_292t1:c.4246G>A	NP_009225.1:p.Ala1416Thr
NM_007297.3:c.4105G>A	NP_009228.2:p.Ala1369Thr
NM_007298.3:c.937G>A	NP_009229.2:p.Ala313Thr
NM_007299.3:c.937G>A	NP_009230.2:p.Ala313Thr
NM_007300.3:c.4246G>A	NP_009231.2:p.Ala1416Thr
NR_027676.1:n.4382G>A
NM_007294.4:c.4246G>A MANE Select	NP_009225.1:p.Ala1416Thr
NM_007297.4:c.4105G>A	NP_009228.2:p.Ala1369Thr
NM_007299.4:c.937G>A	NP_009230.2:p.Ala313Thr
NM_007300.4:c.4246G>A	NP_009231.2:p.Ala1416Thr
NR_027676.2:n.4423G>A