Canonical Allele Identifier: CA002703

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55137
• ClinVar RCV Id: RCV000112293 ; RCV001340332 ; RCV003162413
• dbSNP Id: rs80357306
• gnomAD v4: 17-43082563-T-C
• MyVariant Identifiers: chr17:g.41234580T>C (hg19) ; chr17:g.43082563T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082563T>C , CM000679.2:g.43082563T>C	GRCh38
NC_000017.10:g.41234580T>C , CM000679.1:g.41234580T>C	GRCh37
NC_000017.9:g.38488106T>C	NCBI36
NG_005905.2:g.135421A>G , LRG_292:g.135421A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4198A>G	ENSP00000417241.2:p.Met1400Val
ENST00000470026.6:c.4198A>G	ENSP00000419274.2:p.Met1400Val
ENST00000473961.6:c.4072A>G	ENSP00000420201.2:p.Met1358Val
ENST00000476777.6:c.4192A>G	ENSP00000417554.2:p.Met1398Val
ENST00000477152.6:c.4120A>G	ENSP00000419988.2:p.Met1374Val
ENST00000478531.6:c.886A>G	ENSP00000420412.2:p.Met296Val
ENST00000489037.2:c.4120A>G	ENSP00000420781.2:p.Met1374Val
ENST00000493919.6:c.748A>G	ENSP00000418819.2:p.Met250Val
ENST00000494123.6:c.4198A>G	ENSP00000419103.2:p.Met1400Val
ENST00000497488.2:c.3310A>G	ENSP00000418986.2:p.Met1104Val
ENST00000618469.2:c.4198A>G	ENSP00000478114.2:p.Met1400Val
ENST00000634433.2:c.4075A>G	ENSP00000489431.2:p.Met1359Val
ENST00000644379.2:c.4198A>G	ENSP00000496570.2:p.Met1400Val
ENST00000644555.2:c.748A>G	ENSP00000494614.2:p.Met250Val
ENST00000652672.2:c.4057A>G	ENSP00000498906.2:p.Met1353Val
ENST00000484087.6:c.763A>G	ENSP00000419481.2:p.Met255Val
ENST00000700182.1:c.808A>G	ENSP00000514849.1:p.Met270Val
ENST00000357654.9:c.4198A>G MANE Select	ENSP00000350283.3:p.Met1400Val
ENST00000471181.7:c.4198A>G	ENSP00000418960.2:p.Met1400Val
ENST00000644379.1:c.519A>G
ENST00000352993.7:c.772A>G	ENSP00000312236.5:p.Met258Val
ENST00000357654.7:c.4198A>G	ENSP00000350283.3:p.Met1400Val
ENST00000461221.5:c.*3981A>G	ENSP00000418548.1:n.*3981A>G
ENST00000461574.1:c.492A>G
ENST00000468300.5:c.889A>G	ENSP00000417148.1:p.Met297Val
ENST00000471181.6:c.4198A>G	ENSP00000418960.2:p.Met1400Val
ENST00000478531.5:c.886A>G	ENSP00000420412.1:p.Met296Val
ENST00000484087.5:c.511A>G	ENSP00000419481.1:p.Met171Val
ENST00000487825.5:c.514A>G	ENSP00000418212.1:p.Met172Val
ENST00000491747.6:c.889A>G	ENSP00000420705.2:p.Met297Val
ENST00000493795.5:c.4057A>G	ENSP00000418775.1:p.Met1353Val
ENST00000493919.5:c.748A>G	ENSP00000418819.1:p.Met250Val
ENST00000586385.5:c.5-18612A>G	ENSP00000465818.1:n.5-18612A>G
ENST00000591534.5:c.-43-8042A>G	ENSP00000467329.1:n.-43-8042A>G
ENST00000591849.5:c.-98-32373A>G	ENSP00000465347.1:n.-98-32373A>G
ENST00000621897.1:n.92A>G
NM_007294.3:c.4198A>G , LRG_292t1:c.4198A>G	NP_009225.1:p.Met1400Val
NM_007297.3:c.4057A>G	NP_009228.2:p.Met1353Val
NM_007298.3:c.889A>G	NP_009229.2:p.Met297Val
NM_007299.3:c.889A>G	NP_009230.2:p.Met297Val
NM_007300.3:c.4198A>G	NP_009231.2:p.Met1400Val
NR_027676.1:n.4334A>G
NM_007294.4:c.4198A>G MANE Select	NP_009225.1:p.Met1400Val
NM_007297.4:c.4057A>G	NP_009228.2:p.Met1353Val
NM_007299.4:c.889A>G	NP_009230.2:p.Met297Val
NM_007300.4:c.4198A>G	NP_009231.2:p.Met1400Val
NR_027676.2:n.4375A>G