Canonical Allele Identifier: CA10593269

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 921480
• ClinVar RCV Id: RCV001180922 ; RCV001876006
• dbSNP Id: rs1018305119
• MyVariant Identifiers: chr17:g.41234552T>A (hg19) ; chr17:g.43082535T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082535T>A , CM000679.2:g.43082535T>A	GRCh38
NC_000017.10:g.41234552T>A , CM000679.1:g.41234552T>A	GRCh37
NC_000017.9:g.38488078T>A	NCBI36
NG_005905.2:g.135449A>T , LRG_292:g.135449A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4226A>T	ENSP00000417241.2:p.Gln1409Leu
ENST00000470026.6:c.4226A>T	ENSP00000419274.2:p.Gln1409Leu
ENST00000473961.6:c.4100A>T	ENSP00000420201.2:p.Gln1367Leu
ENST00000476777.6:c.4220A>T	ENSP00000417554.2:p.Gln1407Leu
ENST00000477152.6:c.4148A>T	ENSP00000419988.2:p.Gln1383Leu
ENST00000478531.6:c.914A>T	ENSP00000420412.2:p.Gln305Leu
ENST00000489037.2:c.4148A>T	ENSP00000420781.2:p.Gln1383Leu
ENST00000493919.6:c.776A>T	ENSP00000418819.2:p.Gln259Leu
ENST00000494123.6:c.4226A>T	ENSP00000419103.2:p.Gln1409Leu
ENST00000497488.2:c.3338A>T	ENSP00000418986.2:p.Gln1113Leu
ENST00000618469.2:c.4226A>T	ENSP00000478114.2:p.Gln1409Leu
ENST00000634433.2:c.4103A>T	ENSP00000489431.2:p.Gln1368Leu
ENST00000644379.2:c.4226A>T	ENSP00000496570.2:p.Gln1409Leu
ENST00000644555.2:c.776A>T	ENSP00000494614.2:p.Gln259Leu
ENST00000652672.2:c.4085A>T	ENSP00000498906.2:p.Gln1362Leu
ENST00000484087.6:c.791A>T	ENSP00000419481.2:p.Gln264Leu
ENST00000700182.1:c.836A>T	ENSP00000514849.1:p.Gln279Leu
ENST00000357654.9:c.4226A>T MANE Select	ENSP00000350283.3:p.Gln1409Leu
ENST00000471181.7:c.4226A>T	ENSP00000418960.2:p.Gln1409Leu
ENST00000644379.1:c.547A>T
ENST00000352993.7:c.800A>T	ENSP00000312236.5:p.Gln267Leu
ENST00000357654.7:c.4226A>T	ENSP00000350283.3:p.Gln1409Leu
ENST00000461221.5:c.*4009A>T	ENSP00000418548.1:n.*4009A>T
ENST00000461574.1:c.520A>T
ENST00000468300.5:c.917A>T	ENSP00000417148.1:p.Gln306Leu
ENST00000471181.6:c.4226A>T	ENSP00000418960.2:p.Gln1409Leu
ENST00000478531.5:c.914A>T	ENSP00000420412.1:p.Gln305Leu
ENST00000484087.5:c.539A>T	ENSP00000419481.1:p.Gln180Leu
ENST00000487825.5:c.542A>T	ENSP00000418212.1:p.Gln181Leu
ENST00000491747.6:c.917A>T	ENSP00000420705.2:p.Gln306Leu
ENST00000493795.5:c.4085A>T	ENSP00000418775.1:p.Gln1362Leu
ENST00000493919.5:c.776A>T	ENSP00000418819.1:p.Gln259Leu
ENST00000586385.5:c.5-18584A>T	ENSP00000465818.1:n.5-18584A>T
ENST00000591534.5:c.-43-8014A>T	ENSP00000467329.1:n.-43-8014A>T
ENST00000591849.5:c.-98-32345A>T	ENSP00000465347.1:n.-98-32345A>T
ENST00000621897.1:n.120A>T
NM_007294.3:c.4226A>T , LRG_292t1:c.4226A>T	NP_009225.1:p.Gln1409Leu
NM_007297.3:c.4085A>T	NP_009228.2:p.Gln1362Leu
NM_007298.3:c.917A>T	NP_009229.2:p.Gln306Leu
NM_007299.3:c.917A>T	NP_009230.2:p.Gln306Leu
NM_007300.3:c.4226A>T	NP_009231.2:p.Gln1409Leu
NR_027676.1:n.4362A>T
NM_007294.4:c.4226A>T MANE Select	NP_009225.1:p.Gln1409Leu
NM_007297.4:c.4085A>T	NP_009228.2:p.Gln1362Leu
NM_007299.4:c.917A>T	NP_009230.2:p.Gln306Leu
NM_007300.4:c.4226A>T	NP_009231.2:p.Gln1409Leu
NR_027676.2:n.4403A>T