Canonical Allele Identifier: CA003514

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 37658
• ClinVar RCV Id: RCV000031239 ; RCV000131866 ; RCV000256177 ; RCV000496476 ; RCV001357644
• dbSNP Id: rs80357284
• gnomAD v4: 17-43049181-C-T
• MyVariant Identifiers: chr17:g.41201198C>T (hg19) ; chr17:g.43049181C>T (hg38)
• PubMed: PMID:9362443 ; PMID:12673801 ; PMID:18489799

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43049181C>T , CM000679.2:g.43049181C>T	GRCh38
NC_000017.10:g.41201198C>T , CM000679.1:g.41201198C>T	GRCh37
NC_000017.9:g.38454724C>T	NCBI36
NG_005905.2:g.168803G>A , LRG_292:g.168803G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5343G>A	ENSP00000417241.2:p.Trp1781Ter
ENST00000470026.6:c.5346G>A	ENSP00000419274.2:p.Trp1782Ter
ENST00000473961.6:c.5220G>A	ENSP00000420201.2:p.Trp1740Ter
ENST00000476777.6:c.5340G>A	ENSP00000417554.2:p.Trp1780Ter
ENST00000477152.6:c.5268G>A	ENSP00000419988.2:p.Trp1756Ter
ENST00000478531.6:c.2034G>A	ENSP00000420412.2:p.Trp678Ter
ENST00000489037.2:c.5268G>A	ENSP00000420781.2:p.Trp1756Ter
ENST00000493919.6:c.1896G>A	ENSP00000418819.2:p.Trp632Ter
ENST00000494123.6:c.5346G>A	ENSP00000419103.2:p.Trp1782Ter
ENST00000497488.2:c.4458G>A	ENSP00000418986.2:p.Trp1486Ter
ENST00000618469.2:c.5346G>A	ENSP00000478114.2:p.Trp1782Ter
ENST00000634433.2:c.5223G>A	ENSP00000489431.2:p.Trp1741Ter
ENST00000644379.2:c.5412G>A	ENSP00000496570.2:p.Trp1804Ter
ENST00000644555.2:c.1896G>A	ENSP00000494614.2:p.Trp632Ter
ENST00000652672.2:c.5205G>A	ENSP00000498906.2:p.Trp1735Ter
ENST00000484087.6:c.1908G>A	ENSP00000419481.2:p.Trp636Ter
ENST00000700081.1:n.1229G>A
ENST00000357654.9:c.5346G>A MANE Select	ENSP00000350283.3:p.Trp1782Ter
ENST00000471181.7:c.5409G>A	ENSP00000418960.2:p.Trp1803Ter
ENST00000644379.1:c.1733G>A
ENST00000352993.7:c.1920G>A	ENSP00000312236.5:p.Trp640Ter
ENST00000357654.7:c.5346G>A	ENSP00000350283.3:p.Trp1782Ter
ENST00000461221.5:c.*5129G>A	ENSP00000418548.1:n.*5129G>A
ENST00000468300.5:c.2021-1478G>A	ENSP00000417148.1:n.2021-1478G>A
ENST00000471181.6:c.5409G>A	ENSP00000418960.2:p.Trp1803Ter
ENST00000491747.6:c.2034G>A	ENSP00000420705.2:p.Trp678Ter
ENST00000493795.5:c.5205G>A	ENSP00000418775.1:p.Trp1735Ter
ENST00000586385.5:c.276G>A	ENSP00000465818.1:p.Trp92Ter
ENST00000591534.5:c.819G>A	ENSP00000467329.1:p.Trp273Ter
ENST00000591849.5:c.45G>A	ENSP00000465347.1:p.Trp15Ter
NM_007294.3:c.5346G>A , LRG_292t1:c.5346G>A	NP_009225.1:p.Trp1782Ter
NM_007297.3:c.5205G>A	NP_009228.2:p.Trp1735Ter
NM_007298.3:c.2034G>A	NP_009229.2:p.Trp678Ter
NM_007299.3:c.2021-1478G>A	NP_009230.2:n.2021-1478G>A
NM_007300.3:c.5409G>A	NP_009231.2:p.Trp1803Ter
NR_027676.1:n.5482G>A
NM_007294.4:c.5346G>A MANE Select	NP_009225.1:p.Trp1782Ter
NM_007297.4:c.5205G>A	NP_009228.2:p.Trp1735Ter
NM_007299.4:c.2021-1478G>A	NP_009230.2:n.2021-1478G>A
NM_007300.4:c.5409G>A	NP_009231.2:p.Trp1803Ter
NR_027676.2:n.5523G>A