Canonical Allele Identifier: CA003684

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55608
• ClinVar RCV Id: RCV000112689 ; RCV000218206 ; RCV000496922 ; RCV003128134 ; RCV001268343
• dbSNP Id: rs80357307
• MyVariant Identifiers: chr17:g.41197777C>T (hg19) ; chr17:g.43045760C>T (hg38)
• PubMed: PMID:8807330 ; PMID:15024741

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045760C>T , CM000679.2:g.43045760C>T	GRCh38
NC_000017.10:g.41197777C>T , CM000679.1:g.41197777C>T	GRCh37
NC_000017.9:g.38451303C>T	NCBI36
NG_005905.2:g.172224G>A , LRG_292:g.172224G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5507G>A	ENSP00000417241.2:p.Trp1836Ter
ENST00000470026.6:c.5510G>A	ENSP00000419274.2:p.Trp1837Ter
ENST00000473961.6:c.5384G>A	ENSP00000420201.2:p.Trp1795Ter
ENST00000476777.6:c.5504G>A	ENSP00000417554.2:p.Trp1835Ter
ENST00000477152.6:c.5432G>A	ENSP00000419988.2:p.Trp1811Ter
ENST00000478531.6:c.2198G>A	ENSP00000420412.2:p.Trp733Ter
ENST00000489037.2:c.5432G>A	ENSP00000420781.2:p.Trp1811Ter
ENST00000493919.6:c.2060G>A	ENSP00000418819.2:p.Trp687Ter
ENST00000494123.6:c.5510G>A	ENSP00000419103.2:p.Trp1837Ter
ENST00000497488.2:c.4622G>A	ENSP00000418986.2:p.Trp1541Ter
ENST00000618469.2:c.5510G>A	ENSP00000478114.2:p.Trp1837Ter
ENST00000634433.2:c.5387G>A	ENSP00000489431.2:p.Trp1796Ter
ENST00000644379.2:c.5576G>A	ENSP00000496570.2:p.Trp1859Ter
ENST00000644555.2:c.2060G>A	ENSP00000494614.2:p.Trp687Ter
ENST00000652672.2:c.5369G>A	ENSP00000498906.2:p.Trp1790Ter
ENST00000484087.6:c.2072G>A	ENSP00000419481.2:p.Trp691Ter
ENST00000700081.1:n.1393G>A
ENST00000700082.1:n.874G>A
ENST00000357654.9:c.5510G>A MANE Select	ENSP00000350283.3:p.Trp1837Ter
ENST00000471181.7:c.5573G>A	ENSP00000418960.2:p.Trp1858Ter
ENST00000644379.1:c.1897G>A
ENST00000352993.7:c.2084G>A	ENSP00000312236.5:p.Trp695Ter
ENST00000357654.7:c.5510G>A	ENSP00000350283.3:p.Trp1837Ter
ENST00000461221.5:c.*5293G>A	ENSP00000418548.1:n.*5293G>A
ENST00000468300.5:c.*24G>A	ENSP00000417148.1:n.*24G>A
ENST00000471181.6:c.5573G>A	ENSP00000418960.2:p.Trp1858Ter
ENST00000491747.6:c.2198G>A	ENSP00000420705.2:p.Trp733Ter
ENST00000493795.5:c.5369G>A	ENSP00000418775.1:p.Trp1790Ter
ENST00000586385.5:c.440G>A	ENSP00000465818.1:p.Trp147Ter
ENST00000591534.5:c.983G>A	ENSP00000467329.1:p.Trp328Ter
ENST00000591849.5:c.209G>A	ENSP00000465347.1:p.Trp70Ter
NM_007294.3:c.5510G>A , LRG_292t1:c.5510G>A	NP_009225.1:p.Trp1837Ter
NM_007297.3:c.5369G>A	NP_009228.2:p.Trp1790Ter
NM_007298.3:c.2198G>A	NP_009229.2:p.Trp733Ter
NM_007299.3:c.*24G>A	NP_009230.2:n.*24G>A
NM_007300.3:c.5573G>A	NP_009231.2:p.Trp1858Ter
NR_027676.1:n.5646G>A
NM_007294.4:c.5510G>A MANE Select	NP_009225.1:p.Trp1837Ter
NM_007297.4:c.5369G>A	NP_009228.2:p.Trp1790Ter
NM_007299.4:c.*24G>A	NP_009230.2:n.*24G>A
NM_007300.4:c.5573G>A	NP_009231.2:p.Trp1858Ter
NR_027676.2:n.5687G>A