Canonical Allele Identifier: CA10592687

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1740509
• ClinVar RCV Id: RCV002333928
• dbSNP Id: rs2154065746
• MyVariant Identifiers: chr17:g.41228564G>C (hg19) ; chr17:g.43076547G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076547G>C , CM000679.2:g.43076547G>C	GRCh38
NC_000017.10:g.41228564G>C , CM000679.1:g.41228564G>C	GRCh37
NC_000017.9:g.38482090G>C	NCBI36
NG_005905.2:g.141437C>G , LRG_292:g.141437C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4422C>G	ENSP00000417241.2:p.Asp1474Glu
ENST00000470026.6:c.4425C>G	ENSP00000419274.2:p.Asp1475Glu
ENST00000473961.6:c.4299C>G	ENSP00000420201.2:p.Asp1433Glu
ENST00000476777.6:c.4419C>G	ENSP00000417554.2:p.Asp1473Glu
ENST00000477152.6:c.4347C>G	ENSP00000419988.2:p.Asp1449Glu
ENST00000478531.6:c.1113C>G	ENSP00000420412.2:p.Asp371Glu
ENST00000489037.2:c.4347C>G	ENSP00000420781.2:p.Asp1449Glu
ENST00000493919.6:c.975C>G	ENSP00000418819.2:p.Asp325Glu
ENST00000494123.6:c.4425C>G	ENSP00000419103.2:p.Asp1475Glu
ENST00000497488.2:c.3537C>G	ENSP00000418986.2:p.Asp1179Glu
ENST00000618469.2:c.4425C>G	ENSP00000478114.2:p.Asp1475Glu
ENST00000634433.2:c.4302C>G	ENSP00000489431.2:p.Asp1434Glu
ENST00000644379.2:c.4491C>G	ENSP00000496570.2:p.Asp1497Glu
ENST00000644555.2:c.975C>G	ENSP00000494614.2:p.Asp325Glu
ENST00000652672.2:c.4284C>G	ENSP00000498906.2:p.Asp1428Glu
ENST00000484087.6:c.987C>G	ENSP00000419481.2:p.Asp329Glu
ENST00000700182.1:c.1032C>G	ENSP00000514849.1:p.Asp344Glu
ENST00000357654.9:c.4425C>G MANE Select	ENSP00000350283.3:p.Asp1475Glu
ENST00000471181.7:c.4488C>G	ENSP00000418960.2:p.Asp1496Glu
ENST00000644379.1:c.812C>G
ENST00000352993.7:c.999C>G	ENSP00000312236.5:p.Asp333Glu
ENST00000357654.7:c.4425C>G	ENSP00000350283.3:p.Asp1475Glu
ENST00000461221.5:c.*4208C>G	ENSP00000418548.1:n.*4208C>G
ENST00000461574.1:c.716C>G
ENST00000468300.5:c.1113C>G	ENSP00000417148.1:p.Asp371Glu
ENST00000471181.6:c.4488C>G	ENSP00000418960.2:p.Asp1496Glu
ENST00000478531.5:c.1113C>G	ENSP00000420412.1:p.Asp371Glu
ENST00000484087.5:c.738C>G	ENSP00000419481.1:p.Asp246Glu
ENST00000487825.5:c.741C>G	ENSP00000418212.1:p.Asp247Glu
ENST00000491747.6:c.1113C>G	ENSP00000420705.2:p.Asp371Glu
ENST00000493795.5:c.4284C>G	ENSP00000418775.1:p.Asp1428Glu
ENST00000493919.5:c.975C>G	ENSP00000418819.1:p.Asp325Glu
ENST00000586385.5:c.5-12596C>G	ENSP00000465818.1:n.5-12596C>G
ENST00000591534.5:c.-43-2026C>G	ENSP00000467329.1:n.-43-2026C>G
ENST00000591849.5:c.-98-26357C>G	ENSP00000465347.1:n.-98-26357C>G
ENST00000621897.1:n.316C>G
NM_007294.3:c.4425C>G , LRG_292t1:c.4425C>G	NP_009225.1:p.Asp1475Glu
NM_007297.3:c.4284C>G	NP_009228.2:p.Asp1428Glu
NM_007298.3:c.1113C>G	NP_009229.2:p.Asp371Glu
NM_007299.3:c.1113C>G	NP_009230.2:p.Asp371Glu
NM_007300.3:c.4488C>G	NP_009231.2:p.Asp1496Glu
NR_027676.1:n.4561C>G
NM_007294.4:c.4425C>G MANE Select	NP_009225.1:p.Asp1475Glu
NM_007297.4:c.4284C>G	NP_009228.2:p.Asp1428Glu
NM_007299.4:c.1113C>G	NP_009230.2:p.Asp371Glu
NM_007300.4:c.4488C>G	NP_009231.2:p.Asp1496Glu
NR_027676.2:n.4602C>G