Canonical Allele Identifier: CA002876

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 37598
• ClinVar RCV Id: RCV000031179 ; RCV000048576 ; RCV000131886 ; RCV000159992 ; RCV000238601 ; RCV000462940 ; RCV000770739
• dbSNP Id: rs80357389
• ExAC: 17:41228505 C / A
• gnomAD v2: 17-41228505-C-A
• gnomAD v4: 17-43076488-C-A
• MyVariant Identifiers: chr17:g.41228505C>A (hg19) ; chr17:g.43076488C>A (hg38)
• PubMed: PMID:9333265 ; PMID:10571952 ; PMID:11263928 ; PMID:11938448 ; PMID:12915465 ; PMID:17924331 ; PMID:18159056 ; PMID:18694767 ; PMID:20352487 ; PMID:21120943 ; PMID:21324516 ; PMID:21990134 ; PMID:22476429 ; PMID:22505045 ; PMID:23096355 ; PMID:23374397 ; PMID:24607278 ; PMID:25896959 ; PMID:26287763 ; PMID:26295337 ; PMID:27914478
• CIViC: CA002876

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076488C>A , CM000679.2:g.43076488C>A	GRCh38
NC_000017.10:g.41228505C>A , CM000679.1:g.41228505C>A	GRCh37
NC_000017.9:g.38482031C>A	NCBI36
NG_005905.2:g.141496G>T , LRG_292:g.141496G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4481G>T	ENSP00000417241.2:p.Arg1494Met
ENST00000470026.6:c.4484G>T	ENSP00000419274.2:p.Arg1495Met
ENST00000473961.6:c.4358G>T	ENSP00000420201.2:p.Arg1453Met
ENST00000476777.6:c.4478G>T	ENSP00000417554.2:p.Arg1493Met
ENST00000477152.6:c.4406G>T	ENSP00000419988.2:p.Arg1469Met
ENST00000478531.6:c.1172G>T	ENSP00000420412.2:p.Arg391Met
ENST00000489037.2:c.4406G>T	ENSP00000420781.2:p.Arg1469Met
ENST00000493919.6:c.1034G>T	ENSP00000418819.2:p.Arg345Met
ENST00000494123.6:c.4484G>T	ENSP00000419103.2:p.Arg1495Met
ENST00000497488.2:c.3596G>T	ENSP00000418986.2:p.Arg1199Met
ENST00000618469.2:c.4484G>T	ENSP00000478114.2:p.Arg1495Met
ENST00000634433.2:c.4361G>T	ENSP00000489431.2:p.Arg1454Met
ENST00000644379.2:c.4550G>T	ENSP00000496570.2:p.Arg1517Met
ENST00000644555.2:c.1034G>T	ENSP00000494614.2:p.Arg345Met
ENST00000652672.2:c.4343G>T	ENSP00000498906.2:p.Arg1448Met
ENST00000484087.6:c.1046G>T	ENSP00000419481.2:p.Arg349Met
ENST00000700182.1:c.1091G>T	ENSP00000514849.1:p.Arg364Met
ENST00000357654.9:c.4484G>T MANE Select	ENSP00000350283.3:p.Arg1495Met
ENST00000471181.7:c.4547G>T	ENSP00000418960.2:p.Arg1516Met
ENST00000644379.1:c.871G>T
ENST00000352993.7:c.1058G>T	ENSP00000312236.5:p.Arg353Met
ENST00000357654.7:c.4484G>T	ENSP00000350283.3:p.Arg1495Met
ENST00000461221.5:c.*4267G>T	ENSP00000418548.1:n.*4267G>T
ENST00000468300.5:c.1172G>T	ENSP00000417148.1:p.Arg391Met
ENST00000471181.6:c.4547G>T	ENSP00000418960.2:p.Arg1516Met
ENST00000478531.5:c.1172G>T	ENSP00000420412.1:p.Arg391Met
ENST00000484087.5:c.797G>T	ENSP00000419481.1:p.Arg266Met
ENST00000487825.5:c.800G>T
ENST00000491747.6:c.1172G>T	ENSP00000420705.2:p.Arg391Met
ENST00000493795.5:c.4343G>T	ENSP00000418775.1:p.Arg1448Met
ENST00000493919.5:c.1034G>T	ENSP00000418819.1:p.Arg345Met
ENST00000586385.5:c.5-12537G>T	ENSP00000465818.1:n.5-12537G>T
ENST00000591534.5:c.-43-1967G>T	ENSP00000467329.1:n.-43-1967G>T
ENST00000591849.5:c.-98-26298G>T	ENSP00000465347.1:n.-98-26298G>T
ENST00000621897.1:n.375G>T
NM_007294.3:c.4484G>T , LRG_292t1:c.4484G>T	NP_009225.1:p.Arg1495Met
NM_007297.3:c.4343G>T	NP_009228.2:p.Arg1448Met
NM_007298.3:c.1172G>T	NP_009229.2:p.Arg391Met
NM_007299.3:c.1172G>T	NP_009230.2:p.Arg391Met
NM_007300.3:c.4547G>T	NP_009231.2:p.Arg1516Met
NR_027676.1:n.4620G>T
NM_007294.4:c.4484G>T MANE Select	NP_009225.1:p.Arg1495Met
NM_007297.4:c.4343G>T	NP_009228.2:p.Arg1448Met
NM_007299.4:c.1172G>T	NP_009230.2:p.Arg391Met
NM_007300.4:c.4547G>T	NP_009231.2:p.Arg1516Met
NR_027676.2:n.4661G>T