Canonical Allele Identifier: CA003680

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 37679
• ClinVar RCV Id: RCV000031260 ; RCV000129546 ; RCV000236322 ; RCV000779893
• dbSNP Id: rs80356959
• gnomAD v4: 17-43045761-A-G
• MyVariant Identifiers: chr17:g.41197778A>G (hg19) ; chr17:g.43045761A>G (hg38)
• PubMed: PMID:8968102 ; PMID:11802209 ; PMID:14534301 ; PMID:15172985 ; PMID:15235020 ; PMID:15609993 ; PMID:15689452 ; PMID:16528612 ; PMID:16786532 ; PMID:16969499 ; PMID:17005433 ; PMID:17305420 ; PMID:18036263 ; PMID:20378548 ; PMID:20516115 ; PMID:21447777 ; PMID:27741520 ; PMID:28324225

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045761A>G , CM000679.2:g.43045761A>G	GRCh38
NC_000017.10:g.41197778A>G , CM000679.1:g.41197778A>G	GRCh37
NC_000017.9:g.38451304A>G	NCBI36
NG_005905.2:g.172223T>C , LRG_292:g.172223T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5506T>C	ENSP00000417241.2:p.Trp1836Arg
ENST00000470026.6:c.5509T>C	ENSP00000419274.2:p.Trp1837Arg
ENST00000473961.6:c.5383T>C	ENSP00000420201.2:p.Trp1795Arg
ENST00000476777.6:c.5503T>C	ENSP00000417554.2:p.Trp1835Arg
ENST00000477152.6:c.5431T>C	ENSP00000419988.2:p.Trp1811Arg
ENST00000478531.6:c.2197T>C	ENSP00000420412.2:p.Trp733Arg
ENST00000489037.2:c.5431T>C	ENSP00000420781.2:p.Trp1811Arg
ENST00000493919.6:c.2059T>C	ENSP00000418819.2:p.Trp687Arg
ENST00000494123.6:c.5509T>C	ENSP00000419103.2:p.Trp1837Arg
ENST00000497488.2:c.4621T>C	ENSP00000418986.2:p.Trp1541Arg
ENST00000618469.2:c.5509T>C	ENSP00000478114.2:p.Trp1837Arg
ENST00000634433.2:c.5386T>C	ENSP00000489431.2:p.Trp1796Arg
ENST00000644379.2:c.5575T>C	ENSP00000496570.2:p.Trp1859Arg
ENST00000644555.2:c.2059T>C	ENSP00000494614.2:p.Trp687Arg
ENST00000652672.2:c.5368T>C	ENSP00000498906.2:p.Trp1790Arg
ENST00000484087.6:c.2071T>C	ENSP00000419481.2:p.Trp691Arg
ENST00000700081.1:n.1392T>C
ENST00000700082.1:n.873T>C
ENST00000357654.9:c.5509T>C MANE Select	ENSP00000350283.3:p.Trp1837Arg
ENST00000471181.7:c.5572T>C	ENSP00000418960.2:p.Trp1858Arg
ENST00000644379.1:c.1896T>C
ENST00000352993.7:c.2083T>C	ENSP00000312236.5:p.Trp695Arg
ENST00000357654.7:c.5509T>C	ENSP00000350283.3:p.Trp1837Arg
ENST00000461221.5:c.*5292T>C	ENSP00000418548.1:n.*5292T>C
ENST00000468300.5:c.*23T>C	ENSP00000417148.1:n.*23T>C
ENST00000471181.6:c.5572T>C	ENSP00000418960.2:p.Trp1858Arg
ENST00000491747.6:c.2197T>C	ENSP00000420705.2:p.Trp733Arg
ENST00000493795.5:c.5368T>C	ENSP00000418775.1:p.Trp1790Arg
ENST00000586385.5:c.439T>C	ENSP00000465818.1:p.Trp147Arg
ENST00000591534.5:c.982T>C	ENSP00000467329.1:p.Trp328Arg
ENST00000591849.5:c.208T>C	ENSP00000465347.1:p.Trp70Arg
NM_007294.3:c.5509T>C , LRG_292t1:c.5509T>C	NP_009225.1:p.Trp1837Arg
NM_007297.3:c.5368T>C	NP_009228.2:p.Trp1790Arg
NM_007298.3:c.2197T>C	NP_009229.2:p.Trp733Arg
NM_007299.3:c.*23T>C	NP_009230.2:n.*23T>C
NM_007300.3:c.5572T>C	NP_009231.2:p.Trp1858Arg
NR_027676.1:n.5645T>C
NM_007294.4:c.5509T>C MANE Select	NP_009225.1:p.Trp1837Arg
NM_007297.4:c.5368T>C	NP_009228.2:p.Trp1790Arg
NM_007299.4:c.*23T>C	NP_009230.2:n.*23T>C
NM_007300.4:c.5572T>C	NP_009231.2:p.Trp1858Arg
NR_027676.2:n.5686T>C