Canonical Allele Identifier: CA059639

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 630120
• ClinVar RCV Id: RCV003645107
• dbSNP Id: rs767421571
• ExAC: 17:41234588 C / T
• gnomAD v2: 17-41234588-C-T
• gnomAD v4: 17-43082571-C-T
• MyVariant Identifiers: chr17:g.41234588C>T (hg19) ; chr17:g.43082571C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082571C>T , CM000679.2:g.43082571C>T	GRCh38
NC_000017.10:g.41234588C>T , CM000679.1:g.41234588C>T	GRCh37
NC_000017.9:g.38488114C>T	NCBI36
NG_005905.2:g.135413G>A , LRG_292:g.135413G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4190G>A	ENSP00000417241.2:p.Arg1397Lys
ENST00000470026.6:c.4190G>A	ENSP00000419274.2:p.Arg1397Lys
ENST00000473961.6:c.4064G>A	ENSP00000420201.2:p.Arg1355Lys
ENST00000476777.6:c.4184G>A	ENSP00000417554.2:p.Arg1395Lys
ENST00000477152.6:c.4112G>A	ENSP00000419988.2:p.Arg1371Lys
ENST00000478531.6:c.878G>A	ENSP00000420412.2:p.Arg293Lys
ENST00000489037.2:c.4112G>A	ENSP00000420781.2:p.Arg1371Lys
ENST00000493919.6:c.740G>A	ENSP00000418819.2:p.Arg247Lys
ENST00000494123.6:c.4190G>A	ENSP00000419103.2:p.Arg1397Lys
ENST00000497488.2:c.3302G>A	ENSP00000418986.2:p.Arg1101Lys
ENST00000618469.2:c.4190G>A	ENSP00000478114.2:p.Arg1397Lys
ENST00000634433.2:c.4067G>A	ENSP00000489431.2:p.Arg1356Lys
ENST00000644379.2:c.4190G>A	ENSP00000496570.2:p.Arg1397Lys
ENST00000644555.2:c.740G>A	ENSP00000494614.2:p.Arg247Lys
ENST00000652672.2:c.4049G>A	ENSP00000498906.2:p.Arg1350Lys
ENST00000484087.6:c.755G>A	ENSP00000419481.2:p.Arg252Lys
ENST00000700182.1:c.800G>A	ENSP00000514849.1:p.Arg267Lys
ENST00000357654.9:c.4190G>A MANE Select	ENSP00000350283.3:p.Arg1397Lys
ENST00000471181.7:c.4190G>A	ENSP00000418960.2:p.Arg1397Lys
ENST00000644379.1:c.511G>A
ENST00000352993.7:c.764G>A	ENSP00000312236.5:p.Arg255Lys
ENST00000357654.7:c.4190G>A	ENSP00000350283.3:p.Arg1397Lys
ENST00000461221.5:c.*3973G>A	ENSP00000418548.1:n.*3973G>A
ENST00000461574.1:c.484G>A
ENST00000468300.5:c.881G>A	ENSP00000417148.1:p.Arg294Lys
ENST00000471181.6:c.4190G>A	ENSP00000418960.2:p.Arg1397Lys
ENST00000478531.5:c.878G>A	ENSP00000420412.1:p.Arg293Lys
ENST00000484087.5:c.503G>A	ENSP00000419481.1:p.Arg168Lys
ENST00000487825.5:c.506G>A	ENSP00000418212.1:p.Arg169Lys
ENST00000491747.6:c.881G>A	ENSP00000420705.2:p.Arg294Lys
ENST00000493795.5:c.4049G>A	ENSP00000418775.1:p.Arg1350Lys
ENST00000493919.5:c.740G>A	ENSP00000418819.1:p.Arg247Lys
ENST00000586385.5:c.5-18620G>A	ENSP00000465818.1:n.5-18620G>A
ENST00000591534.5:c.-43-8050G>A	ENSP00000467329.1:n.-43-8050G>A
ENST00000591849.5:c.-98-32381G>A	ENSP00000465347.1:n.-98-32381G>A
ENST00000621897.1:n.84G>A
NM_007294.3:c.4190G>A , LRG_292t1:c.4190G>A	NP_009225.1:p.Arg1397Lys
NM_007297.3:c.4049G>A	NP_009228.2:p.Arg1350Lys
NM_007298.3:c.881G>A	NP_009229.2:p.Arg294Lys
NM_007299.3:c.881G>A	NP_009230.2:p.Arg294Lys
NM_007300.3:c.4190G>A	NP_009231.2:p.Arg1397Lys
NR_027676.1:n.4326G>A
NM_007294.4:c.4190G>A MANE Select	NP_009225.1:p.Arg1397Lys
NM_007297.4:c.4049G>A	NP_009228.2:p.Arg1350Lys
NM_007299.4:c.881G>A	NP_009230.2:p.Arg294Lys
NM_007300.4:c.4190G>A	NP_009231.2:p.Arg1397Lys
NR_027676.2:n.4367G>A