Canonical Allele Identifier: CA10575943

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 224434
• ClinVar RCV Id: RCV000240767
• dbSNP Id: rs886037792
• MyVariant Identifiers: chr17:g.41234589T>G (hg19) ; chr17:g.43082572T>G (hg38)
• PubMed: PMID:27257965

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082572T>G , CM000679.2:g.43082572T>G	GRCh38
NC_000017.10:g.41234589T>G , CM000679.1:g.41234589T>G	GRCh37
NC_000017.9:g.38488115T>G	NCBI36
NG_005905.2:g.135412A>C , LRG_292:g.135412A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4189A>C	ENSP00000417241.2:p.Arg1397=
ENST00000470026.6:c.4189A>C	ENSP00000419274.2:p.Arg1397=
ENST00000473961.6:c.4063A>C	ENSP00000420201.2:p.Arg1355=
ENST00000476777.6:c.4183A>C	ENSP00000417554.2:p.Arg1395=
ENST00000477152.6:c.4111A>C	ENSP00000419988.2:p.Arg1371=
ENST00000478531.6:c.877A>C	ENSP00000420412.2:p.Arg293=
ENST00000489037.2:c.4111A>C	ENSP00000420781.2:p.Arg1371=
ENST00000493919.6:c.739A>C	ENSP00000418819.2:p.Arg247=
ENST00000494123.6:c.4189A>C	ENSP00000419103.2:p.Arg1397=
ENST00000497488.2:c.3301A>C	ENSP00000418986.2:p.Arg1101=
ENST00000618469.2:c.4189A>C	ENSP00000478114.2:p.Arg1397=
ENST00000634433.2:c.4066A>C	ENSP00000489431.2:p.Arg1356=
ENST00000644379.2:c.4189A>C	ENSP00000496570.2:p.Arg1397=
ENST00000644555.2:c.739A>C	ENSP00000494614.2:p.Arg247=
ENST00000652672.2:c.4048A>C	ENSP00000498906.2:p.Arg1350=
ENST00000484087.6:c.754A>C	ENSP00000419481.2:p.Arg252=
ENST00000700182.1:c.799A>C	ENSP00000514849.1:p.Arg267=
ENST00000357654.9:c.4189A>C MANE Select	ENSP00000350283.3:p.Arg1397=
ENST00000471181.7:c.4189A>C	ENSP00000418960.2:p.Arg1397=
ENST00000644379.1:c.510A>C
ENST00000352993.7:c.763A>C	ENSP00000312236.5:p.Arg255=
ENST00000357654.7:c.4189A>C	ENSP00000350283.3:p.Arg1397=
ENST00000461221.5:c.*3972A>C	ENSP00000418548.1:n.*3972A>C
ENST00000461574.1:c.483A>C
ENST00000468300.5:c.880A>C	ENSP00000417148.1:p.Arg294=
ENST00000471181.6:c.4189A>C	ENSP00000418960.2:p.Arg1397=
ENST00000478531.5:c.877A>C	ENSP00000420412.1:p.Arg293=
ENST00000484087.5:c.502A>C	ENSP00000419481.1:p.Arg168=
ENST00000487825.5:c.505A>C	ENSP00000418212.1:p.Arg169=
ENST00000491747.6:c.880A>C	ENSP00000420705.2:p.Arg294=
ENST00000493795.5:c.4048A>C	ENSP00000418775.1:p.Arg1350=
ENST00000493919.5:c.739A>C	ENSP00000418819.1:p.Arg247=
ENST00000586385.5:c.5-18621A>C	ENSP00000465818.1:n.5-18621A>C
ENST00000591534.5:c.-43-8051A>C	ENSP00000467329.1:n.-43-8051A>C
ENST00000591849.5:c.-98-32382A>C	ENSP00000465347.1:n.-98-32382A>C
ENST00000621897.1:n.83A>C
NM_007294.3:c.4189A>C , LRG_292t1:c.4189A>C	NP_009225.1:p.Arg1397=
NM_007297.3:c.4048A>C	NP_009228.2:p.Arg1350=
NM_007298.3:c.880A>C	NP_009229.2:p.Arg294=
NM_007299.3:c.880A>C	NP_009230.2:p.Arg294=
NM_007300.3:c.4189A>C	NP_009231.2:p.Arg1397=
NR_027676.1:n.4325A>C
NM_007294.4:c.4189A>C MANE Select	NP_009225.1:p.Arg1397=
NM_007297.4:c.4048A>C	NP_009228.2:p.Arg1350=
NM_007299.4:c.880A>C	NP_009230.2:p.Arg294=
NM_007300.4:c.4189A>C	NP_009231.2:p.Arg1397=
NR_027676.2:n.4366A>C