Canonical Allele Identifier: CA002834

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 142774
• ClinVar RCV Id: RCV000132176 ; RCV001319013
• dbSNP Id: rs587782708
• MyVariant Identifiers: chr17:g.41228577C>G (hg19) ; chr17:g.43076560C>G (hg38)
• PubMed: PMID:19656164

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076560C>G , CM000679.2:g.43076560C>G	GRCh38
NC_000017.10:g.41228577C>G , CM000679.1:g.41228577C>G	GRCh37
NC_000017.9:g.38482103C>G	NCBI36
NG_005905.2:g.141424G>C , LRG_292:g.141424G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4409G>C	ENSP00000417241.2:p.Gly1470Ala
ENST00000470026.6:c.4412G>C	ENSP00000419274.2:p.Gly1471Ala
ENST00000473961.6:c.4286G>C	ENSP00000420201.2:p.Gly1429Ala
ENST00000476777.6:c.4406G>C	ENSP00000417554.2:p.Gly1469Ala
ENST00000477152.6:c.4334G>C	ENSP00000419988.2:p.Gly1445Ala
ENST00000478531.6:c.1100G>C	ENSP00000420412.2:p.Gly367Ala
ENST00000489037.2:c.4334G>C	ENSP00000420781.2:p.Gly1445Ala
ENST00000493919.6:c.962G>C	ENSP00000418819.2:p.Gly321Ala
ENST00000494123.6:c.4412G>C	ENSP00000419103.2:p.Gly1471Ala
ENST00000497488.2:c.3524G>C	ENSP00000418986.2:p.Gly1175Ala
ENST00000618469.2:c.4412G>C	ENSP00000478114.2:p.Gly1471Ala
ENST00000634433.2:c.4289G>C	ENSP00000489431.2:p.Gly1430Ala
ENST00000644379.2:c.4478G>C	ENSP00000496570.2:p.Gly1493Ala
ENST00000644555.2:c.962G>C	ENSP00000494614.2:p.Gly321Ala
ENST00000652672.2:c.4271G>C	ENSP00000498906.2:p.Gly1424Ala
ENST00000484087.6:c.974G>C	ENSP00000419481.2:p.Gly325Ala
ENST00000700182.1:c.1019G>C	ENSP00000514849.1:p.Gly340Ala
ENST00000357654.9:c.4412G>C MANE Select	ENSP00000350283.3:p.Gly1471Ala
ENST00000471181.7:c.4475G>C	ENSP00000418960.2:p.Gly1492Ala
ENST00000644379.1:c.799G>C
ENST00000352993.7:c.986G>C	ENSP00000312236.5:p.Gly329Ala
ENST00000357654.7:c.4412G>C	ENSP00000350283.3:p.Gly1471Ala
ENST00000461221.5:c.*4195G>C	ENSP00000418548.1:n.*4195G>C
ENST00000461574.1:c.703G>C
ENST00000468300.5:c.1100G>C	ENSP00000417148.1:p.Gly367Ala
ENST00000471181.6:c.4475G>C	ENSP00000418960.2:p.Gly1492Ala
ENST00000478531.5:c.1100G>C	ENSP00000420412.1:p.Gly367Ala
ENST00000484087.5:c.725G>C	ENSP00000419481.1:p.Gly242Ala
ENST00000487825.5:c.728G>C	ENSP00000418212.1:p.Gly243Ala
ENST00000491747.6:c.1100G>C	ENSP00000420705.2:p.Gly367Ala
ENST00000493795.5:c.4271G>C	ENSP00000418775.1:p.Gly1424Ala
ENST00000493919.5:c.962G>C	ENSP00000418819.1:p.Gly321Ala
ENST00000586385.5:c.5-12609G>C	ENSP00000465818.1:n.5-12609G>C
ENST00000591534.5:c.-43-2039G>C	ENSP00000467329.1:n.-43-2039G>C
ENST00000591849.5:c.-98-26370G>C	ENSP00000465347.1:n.-98-26370G>C
ENST00000621897.1:n.303G>C
NM_007294.3:c.4412G>C , LRG_292t1:c.4412G>C	NP_009225.1:p.Gly1471Ala
NM_007297.3:c.4271G>C	NP_009228.2:p.Gly1424Ala
NM_007298.3:c.1100G>C	NP_009229.2:p.Gly367Ala
NM_007299.3:c.1100G>C	NP_009230.2:p.Gly367Ala
NM_007300.3:c.4475G>C	NP_009231.2:p.Gly1492Ala
NR_027676.1:n.4548G>C
NM_007294.4:c.4412G>C MANE Select	NP_009225.1:p.Gly1471Ala
NM_007297.4:c.4271G>C	NP_009228.2:p.Gly1424Ala
NM_007299.4:c.1100G>C	NP_009230.2:p.Gly367Ala
NM_007300.4:c.4475G>C	NP_009231.2:p.Gly1492Ala
NR_027676.2:n.4589G>C