Canonical Allele Identifier: CA002139

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 54836
• ClinVar RCV Id: RCV000112058 ; RCV000496209 ; RCV000570252 ; RCV002267822
• dbSNP Id: rs80357106
• gnomAD v4: 17-43092212-C-A
• MyVariant Identifiers: chr17:g.41244229C>A (hg19) ; chr17:g.43092212C>A (hg38)
• PubMed: PMID:10644434 ; PMID:18465347 ; PMID:18559594 ; PMID:23199084 ; PMID:26833046

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092212C>A , CM000679.2:g.43092212C>A	GRCh38
NC_000017.10:g.41244229C>A , CM000679.1:g.41244229C>A	GRCh37
NC_000017.9:g.38497755C>A	NCBI36
NG_005905.2:g.125772G>T , LRG_292:g.125772G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3383G>T
ENST00000461574.2:c.3319G>T	ENSP00000417241.2:p.Glu1107Ter
ENST00000470026.6:c.3319G>T	ENSP00000419274.2:p.Glu1107Ter
ENST00000473961.6:c.3193G>T	ENSP00000420201.2:p.Glu1065Ter
ENST00000476777.6:c.3316G>T	ENSP00000417554.2:p.Glu1106Ter
ENST00000477152.6:c.3241G>T	ENSP00000419988.2:p.Glu1081Ter
ENST00000478531.6:c.785-1180G>T	ENSP00000420412.2:n.785-1180G>T
ENST00000489037.2:c.3241G>T	ENSP00000420781.2:p.Glu1081Ter
ENST00000493919.6:c.647-1180G>T	ENSP00000418819.2:n.647-1180G>T
ENST00000494123.6:c.3319G>T	ENSP00000419103.2:p.Glu1107Ter
ENST00000497488.2:c.2431G>T	ENSP00000418986.2:p.Glu811Ter
ENST00000618469.2:c.3319G>T	ENSP00000478114.2:p.Glu1107Ter
ENST00000634433.2:c.3196G>T	ENSP00000489431.2:p.Glu1066Ter
ENST00000644379.2:c.3319G>T	ENSP00000496570.2:p.Glu1107Ter
ENST00000644555.2:c.647-1180G>T	ENSP00000494614.2:n.647-1180G>T
ENST00000652672.2:c.3178G>T	ENSP00000498906.2:p.Glu1060Ter
ENST00000484087.6:c.665-1180G>T	ENSP00000419481.2:n.665-1180G>T
ENST00000700182.1:c.707-1180G>T	ENSP00000514849.1:n.707-1180G>T
ENST00000357654.9:c.3319G>T MANE Select	ENSP00000350283.3:p.Glu1107Ter
ENST00000471181.7:c.3319G>T	ENSP00000418960.2:p.Glu1107Ter
ENST00000352993.7:c.671-1180G>T	ENSP00000312236.5:n.671-1180G>T
ENST00000354071.7:c.3319G>T	ENSP00000326002.7:p.Glu1107Ter
ENST00000357654.7:c.3319G>T	ENSP00000350283.3:p.Glu1107Ter
ENST00000461221.5:c.*3102G>T	ENSP00000418548.1:n.*3102G>T
ENST00000468300.5:c.788-1180G>T	ENSP00000417148.1:n.788-1180G>T
ENST00000471181.6:c.3319G>T	ENSP00000418960.2:p.Glu1107Ter
ENST00000478531.5:c.785-1180G>T	ENSP00000420412.1:n.785-1180G>T
ENST00000484087.5:c.410-1180G>T	ENSP00000419481.1:n.410-1180G>T
ENST00000487825.5:c.413-1180G>T	ENSP00000418212.1:n.413-1180G>T
ENST00000491747.6:c.788-1180G>T	ENSP00000420705.2:n.788-1180G>T
ENST00000493795.5:c.3178G>T	ENSP00000418775.1:p.Glu1060Ter
ENST00000493919.5:c.647-1180G>T	ENSP00000418819.1:n.647-1180G>T
ENST00000586385.5:c.5-28261G>T	ENSP00000465818.1:n.5-28261G>T
ENST00000591534.5:c.-43-17691G>T	ENSP00000467329.1:n.-43-17691G>T
ENST00000591849.5:c.-99+33059G>T	ENSP00000465347.1:n.-99+33059G>T
NM_007294.3:c.3319G>T , LRG_292t1:c.3319G>T	NP_009225.1:p.Glu1107Ter
NM_007297.3:c.3178G>T	NP_009228.2:p.Glu1060Ter
NM_007298.3:c.788-1180G>T	NP_009229.2:n.788-1180G>T
NM_007299.3:c.788-1180G>T	NP_009230.2:n.788-1180G>T
NM_007300.3:c.3319G>T	NP_009231.2:p.Glu1107Ter
NR_027676.1:n.3455G>T
NM_007294.4:c.3319G>T MANE Select	NP_009225.1:p.Glu1107Ter
NM_007297.4:c.3178G>T	NP_009228.2:p.Glu1060Ter
NM_007299.4:c.788-1180G>T	NP_009230.2:n.788-1180G>T
NM_007300.4:c.3319G>T	NP_009231.2:p.Glu1107Ter
NR_027676.2:n.3496G>T