Canonical Allele Identifier: CA002163

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 54849
• ClinVar RCV Id: RCV000112073 ; RCV000496843
• dbSNP Id: rs80357278
• MyVariant Identifiers: chr17:g.41244208C>A (hg19) ; chr17:g.43092191C>A (hg38)
• PubMed: PMID:12204006

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092191C>A , CM000679.2:g.43092191C>A	GRCh38
NC_000017.10:g.41244208C>A , CM000679.1:g.41244208C>A	GRCh37
NC_000017.9:g.38497734C>A	NCBI36
NG_005905.2:g.125793G>T , LRG_292:g.125793G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3404G>T
ENST00000461574.2:c.3340G>T	ENSP00000417241.2:p.Glu1114Ter
ENST00000470026.6:c.3340G>T	ENSP00000419274.2:p.Glu1114Ter
ENST00000473961.6:c.3214G>T	ENSP00000420201.2:p.Glu1072Ter
ENST00000476777.6:c.3337G>T	ENSP00000417554.2:p.Glu1113Ter
ENST00000477152.6:c.3262G>T	ENSP00000419988.2:p.Glu1088Ter
ENST00000478531.6:c.785-1159G>T	ENSP00000420412.2:n.785-1159G>T
ENST00000489037.2:c.3262G>T	ENSP00000420781.2:p.Glu1088Ter
ENST00000493919.6:c.647-1159G>T	ENSP00000418819.2:n.647-1159G>T
ENST00000494123.6:c.3340G>T	ENSP00000419103.2:p.Glu1114Ter
ENST00000497488.2:c.2452G>T	ENSP00000418986.2:p.Glu818Ter
ENST00000618469.2:c.3340G>T	ENSP00000478114.2:p.Glu1114Ter
ENST00000634433.2:c.3217G>T	ENSP00000489431.2:p.Glu1073Ter
ENST00000644379.2:c.3340G>T	ENSP00000496570.2:p.Glu1114Ter
ENST00000644555.2:c.647-1159G>T	ENSP00000494614.2:n.647-1159G>T
ENST00000652672.2:c.3199G>T	ENSP00000498906.2:p.Glu1067Ter
ENST00000484087.6:c.665-1159G>T	ENSP00000419481.2:n.665-1159G>T
ENST00000700182.1:c.707-1159G>T	ENSP00000514849.1:n.707-1159G>T
ENST00000357654.9:c.3340G>T MANE Select	ENSP00000350283.3:p.Glu1114Ter
ENST00000471181.7:c.3340G>T	ENSP00000418960.2:p.Glu1114Ter
ENST00000352993.7:c.671-1159G>T	ENSP00000312236.5:n.671-1159G>T
ENST00000354071.7:c.3340G>T	ENSP00000326002.7:p.Glu1114Ter
ENST00000357654.7:c.3340G>T	ENSP00000350283.3:p.Glu1114Ter
ENST00000461221.5:c.*3123G>T	ENSP00000418548.1:n.*3123G>T
ENST00000468300.5:c.788-1159G>T	ENSP00000417148.1:n.788-1159G>T
ENST00000471181.6:c.3340G>T	ENSP00000418960.2:p.Glu1114Ter
ENST00000478531.5:c.785-1159G>T	ENSP00000420412.1:n.785-1159G>T
ENST00000484087.5:c.410-1159G>T	ENSP00000419481.1:n.410-1159G>T
ENST00000487825.5:c.413-1159G>T	ENSP00000418212.1:n.413-1159G>T
ENST00000491747.6:c.788-1159G>T	ENSP00000420705.2:n.788-1159G>T
ENST00000493795.5:c.3199G>T	ENSP00000418775.1:p.Glu1067Ter
ENST00000493919.5:c.647-1159G>T	ENSP00000418819.1:n.647-1159G>T
ENST00000586385.5:c.5-28240G>T	ENSP00000465818.1:n.5-28240G>T
ENST00000591534.5:c.-43-17670G>T	ENSP00000467329.1:n.-43-17670G>T
ENST00000591849.5:c.-99+33080G>T	ENSP00000465347.1:n.-99+33080G>T
NM_007294.3:c.3340G>T , LRG_292t1:c.3340G>T	NP_009225.1:p.Glu1114Ter
NM_007297.3:c.3199G>T	NP_009228.2:p.Glu1067Ter
NM_007298.3:c.788-1159G>T	NP_009229.2:n.788-1159G>T
NM_007299.3:c.788-1159G>T	NP_009230.2:n.788-1159G>T
NM_007300.3:c.3340G>T	NP_009231.2:p.Glu1114Ter
NR_027676.1:n.3476G>T
NM_007294.4:c.3340G>T MANE Select	NP_009225.1:p.Glu1114Ter
NM_007297.4:c.3199G>T	NP_009228.2:p.Glu1067Ter
NM_007299.4:c.788-1159G>T	NP_009230.2:n.788-1159G>T
NM_007300.4:c.3340G>T	NP_009231.2:p.Glu1114Ter
NR_027676.2:n.3517G>T