Canonical Allele Identifier: CA10593071

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 2748373
• ClinVar RCV Id: RCV003531134
• dbSNP Id: rs2154147391
• MyVariant Identifiers: chr17:g.41234453A>T (hg19) ; chr17:g.43082436A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082436A>T , CM000679.2:g.43082436A>T	GRCh38
NC_000017.10:g.41234453A>T , CM000679.1:g.41234453A>T	GRCh37
NC_000017.9:g.38487979A>T	NCBI36
NG_005905.2:g.135548T>A , LRG_292:g.135548T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4325T>A	ENSP00000417241.2:p.Leu1442Gln
ENST00000470026.6:c.4325T>A	ENSP00000419274.2:p.Leu1442Gln
ENST00000473961.6:c.4199T>A	ENSP00000420201.2:p.Leu1400Gln
ENST00000476777.6:c.4319T>A	ENSP00000417554.2:p.Leu1440Gln
ENST00000477152.6:c.4247T>A	ENSP00000419988.2:p.Leu1416Gln
ENST00000478531.6:c.1013T>A	ENSP00000420412.2:p.Leu338Gln
ENST00000489037.2:c.4247T>A	ENSP00000420781.2:p.Leu1416Gln
ENST00000493919.6:c.875T>A	ENSP00000418819.2:p.Leu292Gln
ENST00000494123.6:c.4325T>A	ENSP00000419103.2:p.Leu1442Gln
ENST00000497488.2:c.3437T>A	ENSP00000418986.2:p.Leu1146Gln
ENST00000618469.2:c.4325T>A	ENSP00000478114.2:p.Leu1442Gln
ENST00000634433.2:c.4202T>A	ENSP00000489431.2:p.Leu1401Gln
ENST00000644379.2:c.4325T>A	ENSP00000496570.2:p.Leu1442Gln
ENST00000644555.2:c.875T>A	ENSP00000494614.2:p.Leu292Gln
ENST00000652672.2:c.4184T>A	ENSP00000498906.2:p.Leu1395Gln
ENST00000484087.6:c.890T>A	ENSP00000419481.2:p.Leu297Gln
ENST00000700182.1:c.935T>A	ENSP00000514849.1:p.Leu312Gln
ENST00000357654.9:c.4325T>A MANE Select	ENSP00000350283.3:p.Leu1442Gln
ENST00000471181.7:c.4325T>A	ENSP00000418960.2:p.Leu1442Gln
ENST00000644379.1:c.646T>A
ENST00000352993.7:c.899T>A	ENSP00000312236.5:p.Leu300Gln
ENST00000357654.7:c.4325T>A	ENSP00000350283.3:p.Leu1442Gln
ENST00000461221.5:c.*4108T>A	ENSP00000418548.1:n.*4108T>A
ENST00000461574.1:c.619T>A
ENST00000468300.5:c.1016T>A	ENSP00000417148.1:p.Leu339Gln
ENST00000471181.6:c.4325T>A	ENSP00000418960.2:p.Leu1442Gln
ENST00000478531.5:c.1013T>A	ENSP00000420412.1:p.Leu338Gln
ENST00000484087.5:c.638T>A	ENSP00000419481.1:p.Leu213Gln
ENST00000487825.5:c.641T>A	ENSP00000418212.1:p.Leu214Gln
ENST00000491747.6:c.1016T>A	ENSP00000420705.2:p.Leu339Gln
ENST00000493795.5:c.4184T>A	ENSP00000418775.1:p.Leu1395Gln
ENST00000493919.5:c.875T>A	ENSP00000418819.1:p.Leu292Gln
ENST00000586385.5:c.5-18485T>A	ENSP00000465818.1:n.5-18485T>A
ENST00000591534.5:c.-43-7915T>A	ENSP00000467329.1:n.-43-7915T>A
ENST00000591849.5:c.-98-32246T>A	ENSP00000465347.1:n.-98-32246T>A
ENST00000621897.1:n.219T>A
NM_007294.3:c.4325T>A , LRG_292t1:c.4325T>A	NP_009225.1:p.Leu1442Gln
NM_007297.3:c.4184T>A	NP_009228.2:p.Leu1395Gln
NM_007298.3:c.1016T>A	NP_009229.2:p.Leu339Gln
NM_007299.3:c.1016T>A	NP_009230.2:p.Leu339Gln
NM_007300.3:c.4325T>A	NP_009231.2:p.Leu1442Gln
NR_027676.1:n.4461T>A
NM_007294.4:c.4325T>A MANE Select	NP_009225.1:p.Leu1442Gln
NM_007297.4:c.4184T>A	NP_009228.2:p.Leu1395Gln
NM_007299.4:c.1016T>A	NP_009230.2:p.Leu339Gln
NM_007300.4:c.4325T>A	NP_009231.2:p.Leu1442Gln
NR_027676.2:n.4502T>A