Canonical Allele Identifier: CA003820

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 91664
• ClinVar RCV Id: RCV000077181 ; RCV000233161 ; RCV000569574 ; RCV001800381 ; RCV003493435
• dbSNP Id: rs398122708
• gnomAD v4: 17-43094836-T-A
• MyVariant Identifiers: chr17:g.41246853T>A (hg19) ; chr17:g.43094836T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094836T>A , CM000679.2:g.43094836T>A	GRCh38
NC_000017.10:g.41246853T>A , CM000679.1:g.41246853T>A	GRCh37
NC_000017.9:g.38500379T>A	NCBI36
NG_005905.2:g.123148A>T , LRG_292:g.123148A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.759A>T
ENST00000461574.2:c.695A>T	ENSP00000417241.2:p.Asp232Val
ENST00000470026.6:c.695A>T	ENSP00000419274.2:p.Asp232Val
ENST00000473961.6:c.569A>T	ENSP00000420201.2:p.Asp190Val
ENST00000476777.6:c.692A>T	ENSP00000417554.2:p.Asp231Val
ENST00000477152.6:c.617A>T	ENSP00000419988.2:p.Asp206Val
ENST00000478531.6:c.692A>T	ENSP00000420412.2:p.Asp231Val
ENST00000489037.2:c.617A>T	ENSP00000420781.2:p.Asp206Val
ENST00000493919.6:c.554A>T	ENSP00000418819.2:p.Asp185Val
ENST00000494123.6:c.695A>T	ENSP00000419103.2:p.Asp232Val
ENST00000497488.2:c.-194A>T	ENSP00000418986.2:n.-194A>T
ENST00000618469.2:c.695A>T	ENSP00000478114.2:p.Asp232Val
ENST00000634433.2:c.572A>T	ENSP00000489431.2:p.Asp191Val
ENST00000644379.2:c.695A>T	ENSP00000496570.2:p.Asp232Val
ENST00000644555.2:c.554A>T	ENSP00000494614.2:p.Asp185Val
ENST00000652672.2:c.554A>T	ENSP00000498906.2:p.Asp185Val
ENST00000484087.6:c.572A>T	ENSP00000419481.2:p.Asp191Val
ENST00000700182.1:c.614A>T	ENSP00000514849.1:p.Asp205Val
ENST00000700183.1:c.*703A>T	ENSP00000514850.1:n.*703A>T
ENST00000357654.9:c.695A>T MANE Select	ENSP00000350283.3:p.Asp232Val
ENST00000471181.7:c.695A>T	ENSP00000418960.2:p.Asp232Val
ENST00000642945.1:c.*569A>T	ENSP00000495897.1:n.*569A>T
ENST00000652672.1:c.554A>T	ENSP00000498906.1:p.Asp185Val
ENST00000352993.7:c.670+1010A>T	ENSP00000312236.5:n.670+1010A>T
ENST00000354071.7:c.695A>T	ENSP00000326002.7:p.Asp232Val
ENST00000357654.7:c.695A>T	ENSP00000350283.3:p.Asp232Val
ENST00000412061.3:c.46A>T
ENST00000461221.5:c.*478A>T	ENSP00000418548.1:n.*478A>T
ENST00000468300.5:c.695A>T	ENSP00000417148.1:p.Asp232Val
ENST00000470026.5:c.695A>T	ENSP00000419274.1:p.Asp232Val
ENST00000471181.6:c.695A>T	ENSP00000418960.2:p.Asp232Val
ENST00000473961.5:c.292A>T
ENST00000477152.5:c.617A>T	ENSP00000419988.1:p.Asp206Val
ENST00000478531.5:c.692A>T	ENSP00000420412.1:p.Asp231Val
ENST00000484087.5:c.317A>T	ENSP00000419481.1:p.Asp106Val
ENST00000487825.5:c.320A>T	ENSP00000418212.1:p.Asp107Val
ENST00000491747.6:c.695A>T	ENSP00000420705.2:p.Asp232Val
ENST00000492859.5:c.*631A>T	ENSP00000420253.1:n.*631A>T
ENST00000493795.5:c.554A>T	ENSP00000418775.1:p.Asp185Val
ENST00000493919.5:c.554A>T	ENSP00000418819.1:p.Asp185Val
ENST00000494123.5:c.695A>T	ENSP00000419103.1:p.Asp232Val
ENST00000497488.1:c.-194A>T	ENSP00000418986.1:n.-194A>T
ENST00000586385.5:c.4+30346A>T	ENSP00000465818.1:n.4+30346A>T
ENST00000591534.5:c.-43-20315A>T	ENSP00000467329.1:n.-43-20315A>T
ENST00000591849.5:c.-99+30435A>T	ENSP00000465347.1:n.-99+30435A>T
ENST00000634433.1:c.572A>T	ENSP00000489431.1:p.Asp191Val
NM_007294.3:c.695A>T , LRG_292t1:c.695A>T	NP_009225.1:p.Asp232Val
NM_007297.3:c.554A>T	NP_009228.2:p.Asp185Val
NM_007298.3:c.695A>T	NP_009229.2:p.Asp232Val
NM_007299.3:c.695A>T	NP_009230.2:p.Asp232Val
NM_007300.3:c.695A>T	NP_009231.2:p.Asp232Val
NR_027676.1:n.831A>T
NM_007294.4:c.695A>T MANE Select	NP_009225.1:p.Asp232Val
NM_007297.4:c.554A>T	NP_009228.2:p.Asp185Val
NM_007299.4:c.695A>T	NP_009230.2:p.Asp232Val
NM_007300.4:c.695A>T	NP_009231.2:p.Asp232Val
NR_027676.2:n.872A>T