Canonical Allele Identifier: CA10591194

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 419703
• ClinVar RCV Id: RCV000479108 ; RCV000705711 ; RCV001077742 ; RCV002509403
• dbSNP Id: rs191373374
• MyVariant Identifiers: chr17:g.41215368T>G (hg19) ; chr17:g.43063351T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063351T>G , CM000679.2:g.43063351T>G	GRCh38
NC_000017.10:g.41215368T>G , CM000679.1:g.41215368T>G	GRCh37
NC_000017.9:g.38468894T>G	NCBI36
NG_005905.2:g.154633A>C , LRG_292:g.154633A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5172A>C	ENSP00000417241.2:p.Glu1724Asp
ENST00000470026.6:c.5175A>C	ENSP00000419274.2:p.Glu1725Asp
ENST00000473961.6:c.5049A>C	ENSP00000420201.2:p.Glu1683Asp
ENST00000476777.6:c.5169A>C	ENSP00000417554.2:p.Glu1723Asp
ENST00000477152.6:c.5097A>C	ENSP00000419988.2:p.Glu1699Asp
ENST00000478531.6:c.1863A>C	ENSP00000420412.2:p.Glu621Asp
ENST00000489037.2:c.5097A>C	ENSP00000420781.2:p.Glu1699Asp
ENST00000493919.6:c.1725A>C	ENSP00000418819.2:p.Glu575Asp
ENST00000494123.6:c.5175A>C	ENSP00000419103.2:p.Glu1725Asp
ENST00000497488.2:c.4287A>C	ENSP00000418986.2:p.Glu1429Asp
ENST00000618469.2:c.5175A>C	ENSP00000478114.2:p.Glu1725Asp
ENST00000634433.2:c.5052A>C	ENSP00000489431.2:p.Glu1684Asp
ENST00000644379.2:c.5241A>C	ENSP00000496570.2:p.Glu1747Asp
ENST00000644555.2:c.1725A>C	ENSP00000494614.2:p.Glu575Asp
ENST00000652672.2:c.5034A>C	ENSP00000498906.2:p.Glu1678Asp
ENST00000484087.6:c.1737A>C	ENSP00000419481.2:p.Glu579Asp
ENST00000357654.9:c.5175A>C MANE Select	ENSP00000350283.3:p.Glu1725Asp
ENST00000471181.7:c.5238A>C	ENSP00000418960.2:p.Glu1746Asp
ENST00000644379.1:c.1562A>C
ENST00000352993.7:c.1749A>C	ENSP00000312236.5:p.Glu583Asp
ENST00000357654.7:c.5175A>C	ENSP00000350283.3:p.Glu1725Asp
ENST00000461221.5:c.*4958A>C	ENSP00000418548.1:n.*4958A>C
ENST00000468300.5:c.1863A>C	ENSP00000417148.1:p.Glu621Asp
ENST00000471181.6:c.5238A>C	ENSP00000418960.2:p.Glu1746Asp
ENST00000478531.5:c.1863A>C	ENSP00000420412.1:p.Glu621Asp
ENST00000484087.5:c.1488A>C	ENSP00000419481.1:p.Glu496Asp
ENST00000491747.6:c.1863A>C	ENSP00000420705.2:p.Glu621Asp
ENST00000493795.5:c.5034A>C	ENSP00000418775.1:p.Glu1678Asp
ENST00000586385.5:c.105A>C	ENSP00000465818.1:p.Glu35Asp
ENST00000591534.5:c.648A>C	ENSP00000467329.1:p.Glu216Asp
ENST00000591849.5:c.-98-13161A>C	ENSP00000465347.1:n.-98-13161A>C
NM_007294.3:c.5175A>C , LRG_292t1:c.5175A>C	NP_009225.1:p.Glu1725Asp
NM_007297.3:c.5034A>C	NP_009228.2:p.Glu1678Asp
NM_007298.3:c.1863A>C	NP_009229.2:p.Glu621Asp
NM_007299.3:c.1863A>C	NP_009230.2:p.Glu621Asp
NM_007300.3:c.5238A>C	NP_009231.2:p.Glu1746Asp
NR_027676.1:n.5311A>C
NM_007294.4:c.5175A>C MANE Select	NP_009225.1:p.Glu1725Asp
NM_007297.4:c.5034A>C	NP_009228.2:p.Glu1678Asp
NM_007299.4:c.1863A>C	NP_009230.2:p.Glu621Asp
NM_007300.4:c.5238A>C	NP_009231.2:p.Glu1746Asp
NR_027676.2:n.5352A>C