Canonical Allele Identifier: CA002861

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55206
• ClinVar RCV Id: RCV001174883 ; RCV001324697
• dbSNP Id: rs80357126
• MyVariant Identifiers: chr17:g.41228529T>C (hg19) ; chr17:g.43076512T>C (hg38)
• PubMed: PMID:15235020 ; PMID:18992264 ; PMID:21447777

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076512T>C , CM000679.2:g.43076512T>C	GRCh38
NC_000017.10:g.41228529T>C , CM000679.1:g.41228529T>C	GRCh37
NC_000017.9:g.38482055T>C	NCBI36
NG_005905.2:g.141472A>G , LRG_292:g.141472A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4457A>G	ENSP00000417241.2:p.Lys1486Arg
ENST00000470026.6:c.4460A>G	ENSP00000419274.2:p.Lys1487Arg
ENST00000473961.6:c.4334A>G	ENSP00000420201.2:p.Lys1445Arg
ENST00000476777.6:c.4454A>G	ENSP00000417554.2:p.Lys1485Arg
ENST00000477152.6:c.4382A>G	ENSP00000419988.2:p.Lys1461Arg
ENST00000478531.6:c.1148A>G	ENSP00000420412.2:p.Lys383Arg
ENST00000489037.2:c.4382A>G	ENSP00000420781.2:p.Lys1461Arg
ENST00000493919.6:c.1010A>G	ENSP00000418819.2:p.Lys337Arg
ENST00000494123.6:c.4460A>G	ENSP00000419103.2:p.Lys1487Arg
ENST00000497488.2:c.3572A>G	ENSP00000418986.2:p.Lys1191Arg
ENST00000618469.2:c.4460A>G	ENSP00000478114.2:p.Lys1487Arg
ENST00000634433.2:c.4337A>G	ENSP00000489431.2:p.Lys1446Arg
ENST00000644379.2:c.4526A>G	ENSP00000496570.2:p.Lys1509Arg
ENST00000644555.2:c.1010A>G	ENSP00000494614.2:p.Lys337Arg
ENST00000652672.2:c.4319A>G	ENSP00000498906.2:p.Lys1440Arg
ENST00000484087.6:c.1022A>G	ENSP00000419481.2:p.Lys341Arg
ENST00000700182.1:c.1067A>G	ENSP00000514849.1:p.Lys356Arg
ENST00000357654.9:c.4460A>G MANE Select	ENSP00000350283.3:p.Lys1487Arg
ENST00000471181.7:c.4523A>G	ENSP00000418960.2:p.Lys1508Arg
ENST00000644379.1:c.847A>G
ENST00000352993.7:c.1034A>G	ENSP00000312236.5:p.Lys345Arg
ENST00000357654.7:c.4460A>G	ENSP00000350283.3:p.Lys1487Arg
ENST00000461221.5:c.*4243A>G	ENSP00000418548.1:n.*4243A>G
ENST00000468300.5:c.1148A>G	ENSP00000417148.1:p.Lys383Arg
ENST00000471181.6:c.4523A>G	ENSP00000418960.2:p.Lys1508Arg
ENST00000478531.5:c.1148A>G	ENSP00000420412.1:p.Lys383Arg
ENST00000484087.5:c.773A>G	ENSP00000419481.1:p.Lys258Arg
ENST00000487825.5:c.776A>G	ENSP00000418212.1:p.Lys259Arg
ENST00000491747.6:c.1148A>G	ENSP00000420705.2:p.Lys383Arg
ENST00000493795.5:c.4319A>G	ENSP00000418775.1:p.Lys1440Arg
ENST00000493919.5:c.1010A>G	ENSP00000418819.1:p.Lys337Arg
ENST00000586385.5:c.5-12561A>G	ENSP00000465818.1:n.5-12561A>G
ENST00000591534.5:c.-43-1991A>G	ENSP00000467329.1:n.-43-1991A>G
ENST00000591849.5:c.-98-26322A>G	ENSP00000465347.1:n.-98-26322A>G
ENST00000621897.1:n.351A>G
NM_007294.3:c.4460A>G , LRG_292t1:c.4460A>G	NP_009225.1:p.Lys1487Arg
NM_007297.3:c.4319A>G	NP_009228.2:p.Lys1440Arg
NM_007298.3:c.1148A>G	NP_009229.2:p.Lys383Arg
NM_007299.3:c.1148A>G	NP_009230.2:p.Lys383Arg
NM_007300.3:c.4523A>G	NP_009231.2:p.Lys1508Arg
NR_027676.1:n.4596A>G
NM_007294.4:c.4460A>G MANE Select	NP_009225.1:p.Lys1487Arg
NM_007297.4:c.4319A>G	NP_009228.2:p.Lys1440Arg
NM_007299.4:c.1148A>G	NP_009230.2:p.Lys383Arg
NM_007300.4:c.4523A>G	NP_009231.2:p.Lys1508Arg
NR_027676.2:n.4637A>G