Canonical Allele Identifier: CA002327

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 54948
• ClinVar RCV Id: RCV000112142 ; RCV000162552 ; RCV000433388 ; RCV000590363 ; RCV001080705
• dbSNP Id: rs80356923
• ExAC: 17:41243908 C / T
• gnomAD v2: 17-41243908-C-T
• gnomAD v3: 17-43091891-C-T
• gnomAD v4: 17-43091891-C-T
• MyVariant Identifiers: chr17:g.41243908C>T (hg19) ; chr17:g.43091891C>T (hg38)
• PubMed: PMID:15447980 ; PMID:16267036 ; PMID:16518693 ; PMID:17924331 ; PMID:18273839 ; PMID:21120943 ; PMID:21147080 ; PMID:21965345 ; PMID:21990134 ; PMID:22516946 ; PMID:22753008 ; PMID:23704879

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091891C>T , CM000679.2:g.43091891C>T	GRCh38
NC_000017.10:g.41243908C>T , CM000679.1:g.41243908C>T	GRCh37
NC_000017.9:g.38497434C>T	NCBI36
NG_005905.2:g.126093G>A , LRG_292:g.126093G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.3704G>A
ENST00000461574.2:c.3640G>A	ENSP00000417241.2:p.Glu1214Lys
ENST00000470026.6:c.3640G>A	ENSP00000419274.2:p.Glu1214Lys
ENST00000473961.6:c.3514G>A	ENSP00000420201.2:p.Glu1172Lys
ENST00000476777.6:c.3637G>A	ENSP00000417554.2:p.Glu1213Lys
ENST00000477152.6:c.3562G>A	ENSP00000419988.2:p.Glu1188Lys
ENST00000478531.6:c.785-859G>A	ENSP00000420412.2:n.785-859G>A
ENST00000489037.2:c.3562G>A	ENSP00000420781.2:p.Glu1188Lys
ENST00000493919.6:c.647-859G>A	ENSP00000418819.2:n.647-859G>A
ENST00000494123.6:c.3640G>A	ENSP00000419103.2:p.Glu1214Lys
ENST00000497488.2:c.2752G>A	ENSP00000418986.2:p.Glu918Lys
ENST00000618469.2:c.3640G>A	ENSP00000478114.2:p.Glu1214Lys
ENST00000634433.2:c.3517G>A	ENSP00000489431.2:p.Glu1173Lys
ENST00000644379.2:c.3640G>A	ENSP00000496570.2:p.Glu1214Lys
ENST00000644555.2:c.647-859G>A	ENSP00000494614.2:n.647-859G>A
ENST00000652672.2:c.3499G>A	ENSP00000498906.2:p.Glu1167Lys
ENST00000484087.6:c.665-859G>A	ENSP00000419481.2:n.665-859G>A
ENST00000700182.1:c.707-859G>A	ENSP00000514849.1:n.707-859G>A
ENST00000357654.9:c.3640G>A MANE Select	ENSP00000350283.3:p.Glu1214Lys
ENST00000471181.7:c.3640G>A	ENSP00000418960.2:p.Glu1214Lys
ENST00000352993.7:c.671-859G>A	ENSP00000312236.5:n.671-859G>A
ENST00000354071.7:c.3640G>A	ENSP00000326002.7:p.Glu1214Lys
ENST00000357654.7:c.3640G>A	ENSP00000350283.3:p.Glu1214Lys
ENST00000461221.5:c.*3423G>A	ENSP00000418548.1:n.*3423G>A
ENST00000468300.5:c.788-859G>A	ENSP00000417148.1:n.788-859G>A
ENST00000471181.6:c.3640G>A	ENSP00000418960.2:p.Glu1214Lys
ENST00000478531.5:c.785-859G>A	ENSP00000420412.1:n.785-859G>A
ENST00000484087.5:c.410-859G>A	ENSP00000419481.1:n.410-859G>A
ENST00000487825.5:c.413-859G>A	ENSP00000418212.1:n.413-859G>A
ENST00000491747.6:c.788-859G>A	ENSP00000420705.2:n.788-859G>A
ENST00000493795.5:c.3499G>A	ENSP00000418775.1:p.Glu1167Lys
ENST00000493919.5:c.647-859G>A	ENSP00000418819.1:n.647-859G>A
ENST00000586385.5:c.5-27940G>A	ENSP00000465818.1:n.5-27940G>A
ENST00000591534.5:c.-43-17370G>A	ENSP00000467329.1:n.-43-17370G>A
ENST00000591849.5:c.-99+33380G>A	ENSP00000465347.1:n.-99+33380G>A
NM_007294.3:c.3640G>A , LRG_292t1:c.3640G>A	NP_009225.1:p.Glu1214Lys
NM_007297.3:c.3499G>A	NP_009228.2:p.Glu1167Lys
NM_007298.3:c.788-859G>A	NP_009229.2:n.788-859G>A
NM_007299.3:c.788-859G>A	NP_009230.2:n.788-859G>A
NM_007300.3:c.3640G>A	NP_009231.2:p.Glu1214Lys
NR_027676.1:n.3776G>A
NM_007294.4:c.3640G>A MANE Select	NP_009225.1:p.Glu1214Lys
NM_007297.4:c.3499G>A	NP_009228.2:p.Glu1167Lys
NM_007299.4:c.788-859G>A	NP_009230.2:n.788-859G>A
NM_007300.4:c.3640G>A	NP_009231.2:p.Glu1214Lys
NR_027676.2:n.3817G>A