Canonical Allele Identifier: CA10580525

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 234039
• ClinVar RCV Id: RCV000216918 ; RCV000709471 ; RCV000985414 ; RCV000989886
• dbSNP Id: rs876660809
• gnomAD v4: 17-43082457-T-C
• MyVariant Identifiers: chr17:g.41234474T>C (hg19) ; chr17:g.43082457T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082457T>C , CM000679.2:g.43082457T>C	GRCh38
NC_000017.10:g.41234474T>C , CM000679.1:g.41234474T>C	GRCh37
NC_000017.9:g.38488000T>C	NCBI36
NG_005905.2:g.135527A>G , LRG_292:g.135527A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4304A>G	ENSP00000417241.2:p.Asp1435Gly
ENST00000470026.6:c.4304A>G	ENSP00000419274.2:p.Asp1435Gly
ENST00000473961.6:c.4178A>G	ENSP00000420201.2:p.Asp1393Gly
ENST00000476777.6:c.4298A>G	ENSP00000417554.2:p.Asp1433Gly
ENST00000477152.6:c.4226A>G	ENSP00000419988.2:p.Asp1409Gly
ENST00000478531.6:c.992A>G	ENSP00000420412.2:p.Asp331Gly
ENST00000489037.2:c.4226A>G	ENSP00000420781.2:p.Asp1409Gly
ENST00000493919.6:c.854A>G	ENSP00000418819.2:p.Asp285Gly
ENST00000494123.6:c.4304A>G	ENSP00000419103.2:p.Asp1435Gly
ENST00000497488.2:c.3416A>G	ENSP00000418986.2:p.Asp1139Gly
ENST00000618469.2:c.4304A>G	ENSP00000478114.2:p.Asp1435Gly
ENST00000634433.2:c.4181A>G	ENSP00000489431.2:p.Asp1394Gly
ENST00000644379.2:c.4304A>G	ENSP00000496570.2:p.Asp1435Gly
ENST00000644555.2:c.854A>G	ENSP00000494614.2:p.Asp285Gly
ENST00000652672.2:c.4163A>G	ENSP00000498906.2:p.Asp1388Gly
ENST00000484087.6:c.869A>G	ENSP00000419481.2:p.Asp290Gly
ENST00000700182.1:c.914A>G	ENSP00000514849.1:p.Asp305Gly
ENST00000357654.9:c.4304A>G MANE Select	ENSP00000350283.3:p.Asp1435Gly
ENST00000471181.7:c.4304A>G	ENSP00000418960.2:p.Asp1435Gly
ENST00000644379.1:c.625A>G
ENST00000352993.7:c.878A>G	ENSP00000312236.5:p.Asp293Gly
ENST00000357654.7:c.4304A>G	ENSP00000350283.3:p.Asp1435Gly
ENST00000461221.5:c.*4087A>G	ENSP00000418548.1:n.*4087A>G
ENST00000461574.1:c.598A>G
ENST00000468300.5:c.995A>G	ENSP00000417148.1:p.Asp332Gly
ENST00000471181.6:c.4304A>G	ENSP00000418960.2:p.Asp1435Gly
ENST00000478531.5:c.992A>G	ENSP00000420412.1:p.Asp331Gly
ENST00000484087.5:c.617A>G	ENSP00000419481.1:p.Asp206Gly
ENST00000487825.5:c.620A>G	ENSP00000418212.1:p.Asp207Gly
ENST00000491747.6:c.995A>G	ENSP00000420705.2:p.Asp332Gly
ENST00000493795.5:c.4163A>G	ENSP00000418775.1:p.Asp1388Gly
ENST00000493919.5:c.854A>G	ENSP00000418819.1:p.Asp285Gly
ENST00000586385.5:c.5-18506A>G	ENSP00000465818.1:n.5-18506A>G
ENST00000591534.5:c.-43-7936A>G	ENSP00000467329.1:n.-43-7936A>G
ENST00000591849.5:c.-98-32267A>G	ENSP00000465347.1:n.-98-32267A>G
ENST00000621897.1:n.198A>G
NM_007294.3:c.4304A>G , LRG_292t1:c.4304A>G	NP_009225.1:p.Asp1435Gly
NM_007297.3:c.4163A>G	NP_009228.2:p.Asp1388Gly
NM_007298.3:c.995A>G	NP_009229.2:p.Asp332Gly
NM_007299.3:c.995A>G	NP_009230.2:p.Asp332Gly
NM_007300.3:c.4304A>G	NP_009231.2:p.Asp1435Gly
NR_027676.1:n.4440A>G
NM_007294.4:c.4304A>G MANE Select	NP_009225.1:p.Asp1435Gly
NM_007297.4:c.4163A>G	NP_009228.2:p.Asp1388Gly
NM_007299.4:c.995A>G	NP_009230.2:p.Asp332Gly
NM_007300.4:c.4304A>G	NP_009231.2:p.Asp1435Gly
NR_027676.2:n.4481A>G