Canonical Allele Identifier: CA002782

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 185700
• ClinVar RCV Id: RCV000165170 ; RCV000495009 ; RCV001479473
• dbSNP Id: rs786202387
• gnomAD v4: 17-43082408-T-C
• MyVariant Identifiers: chr17:g.41234425T>C (hg19) ; chr17:g.43082408T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082408T>C , CM000679.2:g.43082408T>C	GRCh38
NC_000017.10:g.41234425T>C , CM000679.1:g.41234425T>C	GRCh37
NC_000017.9:g.38487951T>C	NCBI36
NG_005905.2:g.135576A>G , LRG_292:g.135576A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4353A>G	ENSP00000417241.2:p.Glu1451=
ENST00000470026.6:c.4353A>G	ENSP00000419274.2:p.Glu1451=
ENST00000473961.6:c.4227A>G	ENSP00000420201.2:p.Glu1409=
ENST00000476777.6:c.4347A>G	ENSP00000417554.2:p.Glu1449=
ENST00000477152.6:c.4275A>G	ENSP00000419988.2:p.Glu1425=
ENST00000478531.6:c.1041A>G	ENSP00000420412.2:p.Glu347=
ENST00000489037.2:c.4275A>G	ENSP00000420781.2:p.Glu1425=
ENST00000493919.6:c.903A>G	ENSP00000418819.2:p.Glu301=
ENST00000494123.6:c.4353A>G	ENSP00000419103.2:p.Glu1451=
ENST00000497488.2:c.3465A>G	ENSP00000418986.2:p.Glu1155=
ENST00000618469.2:c.4353A>G	ENSP00000478114.2:p.Glu1451=
ENST00000634433.2:c.4230A>G	ENSP00000489431.2:p.Glu1410=
ENST00000644379.2:c.4353A>G	ENSP00000496570.2:p.Glu1451=
ENST00000644555.2:c.903A>G	ENSP00000494614.2:p.Glu301=
ENST00000652672.2:c.4212A>G	ENSP00000498906.2:p.Glu1404=
ENST00000484087.6:c.918A>G	ENSP00000419481.2:p.Glu306=
ENST00000700182.1:c.963A>G	ENSP00000514849.1:p.Glu321=
ENST00000357654.9:c.4353A>G MANE Select	ENSP00000350283.3:p.Glu1451=
ENST00000471181.7:c.4353A>G	ENSP00000418960.2:p.Glu1451=
ENST00000644379.1:c.674A>G
ENST00000352993.7:c.927A>G	ENSP00000312236.5:p.Glu309=
ENST00000357654.7:c.4353A>G	ENSP00000350283.3:p.Glu1451=
ENST00000461221.5:c.*4136A>G	ENSP00000418548.1:n.*4136A>G
ENST00000461574.1:c.647A>G
ENST00000468300.5:c.1044A>G	ENSP00000417148.1:p.Glu348=
ENST00000471181.6:c.4353A>G	ENSP00000418960.2:p.Glu1451=
ENST00000478531.5:c.1041A>G	ENSP00000420412.1:p.Glu347=
ENST00000484087.5:c.666A>G	ENSP00000419481.1:p.Glu222=
ENST00000487825.5:c.669A>G	ENSP00000418212.1:p.Glu223=
ENST00000491747.6:c.1044A>G	ENSP00000420705.2:p.Glu348=
ENST00000493795.5:c.4212A>G	ENSP00000418775.1:p.Glu1404=
ENST00000493919.5:c.903A>G	ENSP00000418819.1:p.Glu301=
ENST00000586385.5:c.5-18457A>G	ENSP00000465818.1:n.5-18457A>G
ENST00000591534.5:c.-43-7887A>G	ENSP00000467329.1:n.-43-7887A>G
ENST00000591849.5:c.-98-32218A>G	ENSP00000465347.1:n.-98-32218A>G
ENST00000621897.1:n.247A>G
NM_007294.3:c.4353A>G , LRG_292t1:c.4353A>G	NP_009225.1:p.Glu1451=
NM_007297.3:c.4212A>G	NP_009228.2:p.Glu1404=
NM_007298.3:c.1044A>G	NP_009229.2:p.Glu348=
NM_007299.3:c.1044A>G	NP_009230.2:p.Glu348=
NM_007300.3:c.4353A>G	NP_009231.2:p.Glu1451=
NR_027676.1:n.4489A>G
NM_007294.4:c.4353A>G MANE Select	NP_009225.1:p.Glu1451=
NM_007297.4:c.4212A>G	NP_009228.2:p.Glu1404=
NM_007299.4:c.1044A>G	NP_009230.2:p.Glu348=
NM_007300.4:c.4353A>G	NP_009231.2:p.Glu1451=
NR_027676.2:n.4530A>G