Canonical Allele Identifier: CA10593271

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1992376
• ClinVar RCV Id: RCV002814361
• MyVariant Identifiers: chr17:g.41234552T>G (hg19) ; chr17:g.43082535T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4226A>C	ENSP00000417241.2:p.Gln1409Pro
ENST00000470026.6:c.4226A>C	ENSP00000419274.2:p.Gln1409Pro
ENST00000473961.6:c.4100A>C	ENSP00000420201.2:p.Gln1367Pro
ENST00000476777.6:c.4220A>C	ENSP00000417554.2:p.Gln1407Pro
ENST00000477152.6:c.4148A>C	ENSP00000419988.2:p.Gln1383Pro
ENST00000478531.6:c.914A>C	ENSP00000420412.2:p.Gln305Pro
ENST00000489037.2:c.4148A>C	ENSP00000420781.2:p.Gln1383Pro
ENST00000493919.6:c.776A>C	ENSP00000418819.2:p.Gln259Pro
ENST00000494123.6:c.4226A>C	ENSP00000419103.2:p.Gln1409Pro
ENST00000497488.2:c.3338A>C	ENSP00000418986.2:p.Gln1113Pro
ENST00000618469.2:c.4226A>C	ENSP00000478114.2:p.Gln1409Pro
ENST00000634433.2:c.4103A>C	ENSP00000489431.2:p.Gln1368Pro
ENST00000644379.2:c.4226A>C	ENSP00000496570.2:p.Gln1409Pro
ENST00000644555.2:c.776A>C	ENSP00000494614.2:p.Gln259Pro
ENST00000652672.2:c.4085A>C	ENSP00000498906.2:p.Gln1362Pro
ENST00000484087.6:c.791A>C	ENSP00000419481.2:p.Gln264Pro
ENST00000700182.1:c.836A>C	ENSP00000514849.1:p.Gln279Pro
ENST00000357654.9:c.4226A>C MANE Select	ENSP00000350283.3:p.Gln1409Pro
ENST00000471181.7:c.4226A>C	ENSP00000418960.2:p.Gln1409Pro
ENST00000644379.1:c.547A>C
ENST00000352993.7:c.800A>C	ENSP00000312236.5:p.Gln267Pro
ENST00000357654.7:c.4226A>C	ENSP00000350283.3:p.Gln1409Pro
ENST00000461221.5:c.*4009A>C	ENSP00000418548.1:n.*4009A>C
ENST00000461574.1:c.520A>C
ENST00000468300.5:c.917A>C	ENSP00000417148.1:p.Gln306Pro
ENST00000471181.6:c.4226A>C	ENSP00000418960.2:p.Gln1409Pro
ENST00000478531.5:c.914A>C	ENSP00000420412.1:p.Gln305Pro
ENST00000484087.5:c.539A>C	ENSP00000419481.1:p.Gln180Pro
ENST00000487825.5:c.542A>C	ENSP00000418212.1:p.Gln181Pro
ENST00000491747.6:c.917A>C	ENSP00000420705.2:p.Gln306Pro
ENST00000493795.5:c.4085A>C	ENSP00000418775.1:p.Gln1362Pro
ENST00000493919.5:c.776A>C	ENSP00000418819.1:p.Gln259Pro
ENST00000586385.5:c.5-18584A>C	ENSP00000465818.1:n.5-18584A>C
ENST00000591534.5:c.-43-8014A>C	ENSP00000467329.1:n.-43-8014A>C
ENST00000591849.5:c.-98-32345A>C	ENSP00000465347.1:n.-98-32345A>C
ENST00000621897.1:n.120A>C
NM_007294.3:c.4226A>C , LRG_292t1:c.4226A>C	NP_009225.1:p.Gln1409Pro
NM_007297.3:c.4085A>C	NP_009228.2:p.Gln1362Pro
NM_007298.3:c.917A>C	NP_009229.2:p.Gln306Pro
NM_007299.3:c.917A>C	NP_009230.2:p.Gln306Pro
NM_007300.3:c.4226A>C	NP_009231.2:p.Gln1409Pro
NR_027676.1:n.4362A>C
NM_007294.4:c.4226A>C MANE Select	NP_009225.1:p.Gln1409Pro
NM_007297.4:c.4085A>C	NP_009228.2:p.Gln1362Pro
NM_007299.4:c.917A>C	NP_009230.2:p.Gln306Pro
NM_007300.4:c.4226A>C	NP_009231.2:p.Gln1409Pro
NR_027676.2:n.4403A>C