Canonical Allele Identifier: CA10592734

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 3069230
• ClinVar RCV Id: RCV004007774
• MyVariant Identifiers: chr17:g.41228589T>C (hg19) ; chr17:g.43076572T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076572T>C , CM000679.2:g.43076572T>C	GRCh38
NC_000017.10:g.41228589T>C , CM000679.1:g.41228589T>C	GRCh37
NC_000017.9:g.38482115T>C	NCBI36
NG_005905.2:g.141412A>G , LRG_292:g.141412A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4397A>G	ENSP00000417241.2:p.Gln1466Arg
ENST00000470026.6:c.4400A>G	ENSP00000419274.2:p.Gln1467Arg
ENST00000473961.6:c.4274A>G	ENSP00000420201.2:p.Gln1425Arg
ENST00000476777.6:c.4394A>G	ENSP00000417554.2:p.Gln1465Arg
ENST00000477152.6:c.4322A>G	ENSP00000419988.2:p.Gln1441Arg
ENST00000478531.6:c.1088A>G	ENSP00000420412.2:p.Gln363Arg
ENST00000489037.2:c.4322A>G	ENSP00000420781.2:p.Gln1441Arg
ENST00000493919.6:c.950A>G	ENSP00000418819.2:p.Gln317Arg
ENST00000494123.6:c.4400A>G	ENSP00000419103.2:p.Gln1467Arg
ENST00000497488.2:c.3512A>G	ENSP00000418986.2:p.Gln1171Arg
ENST00000618469.2:c.4400A>G	ENSP00000478114.2:p.Gln1467Arg
ENST00000634433.2:c.4277A>G	ENSP00000489431.2:p.Gln1426Arg
ENST00000644379.2:c.4466A>G	ENSP00000496570.2:p.Gln1489Arg
ENST00000644555.2:c.950A>G	ENSP00000494614.2:p.Gln317Arg
ENST00000652672.2:c.4259A>G	ENSP00000498906.2:p.Gln1420Arg
ENST00000484087.6:c.962A>G	ENSP00000419481.2:p.Gln321Arg
ENST00000700182.1:c.1007A>G	ENSP00000514849.1:p.Gln336Arg
ENST00000357654.9:c.4400A>G MANE Select	ENSP00000350283.3:p.Gln1467Arg
ENST00000471181.7:c.4463A>G	ENSP00000418960.2:p.Gln1488Arg
ENST00000644379.1:c.787A>G
ENST00000352993.7:c.974A>G	ENSP00000312236.5:p.Gln325Arg
ENST00000357654.7:c.4400A>G	ENSP00000350283.3:p.Gln1467Arg
ENST00000461221.5:c.*4183A>G	ENSP00000418548.1:n.*4183A>G
ENST00000461574.1:c.691A>G
ENST00000468300.5:c.1088A>G	ENSP00000417148.1:p.Gln363Arg
ENST00000471181.6:c.4463A>G	ENSP00000418960.2:p.Gln1488Arg
ENST00000478531.5:c.1088A>G	ENSP00000420412.1:p.Gln363Arg
ENST00000484087.5:c.713A>G	ENSP00000419481.1:p.Gln238Arg
ENST00000487825.5:c.716A>G	ENSP00000418212.1:p.Gln239Arg
ENST00000491747.6:c.1088A>G	ENSP00000420705.2:p.Gln363Arg
ENST00000493795.5:c.4259A>G	ENSP00000418775.1:p.Gln1420Arg
ENST00000493919.5:c.950A>G	ENSP00000418819.1:p.Gln317Arg
ENST00000586385.5:c.5-12621A>G	ENSP00000465818.1:n.5-12621A>G
ENST00000591534.5:c.-43-2051A>G	ENSP00000467329.1:n.-43-2051A>G
ENST00000591849.5:c.-98-26382A>G	ENSP00000465347.1:n.-98-26382A>G
ENST00000621897.1:n.291A>G
NM_007294.3:c.4400A>G , LRG_292t1:c.4400A>G	NP_009225.1:p.Gln1467Arg
NM_007297.3:c.4259A>G	NP_009228.2:p.Gln1420Arg
NM_007298.3:c.1088A>G	NP_009229.2:p.Gln363Arg
NM_007299.3:c.1088A>G	NP_009230.2:p.Gln363Arg
NM_007300.3:c.4463A>G	NP_009231.2:p.Gln1488Arg
NR_027676.1:n.4536A>G
NM_007294.4:c.4400A>G MANE Select	NP_009225.1:p.Gln1467Arg
NM_007297.4:c.4259A>G	NP_009228.2:p.Gln1420Arg
NM_007299.4:c.1088A>G	NP_009230.2:p.Gln363Arg
NM_007300.4:c.4463A>G	NP_009231.2:p.Gln1488Arg
NR_027676.2:n.4577A>G