Canonical Allele Identifier: CA308109171

Gene: RYR1

Linked Data

• ClinVar Variation Id: 2649813
• ClinVar RCV Id: RCV003406964 ; RCV003592041
• dbSNP Id: rs938670458
• gnomAD v2: 19-39055766-C-CGCGGGCGCGGCGGAG
• gnomAD v3: 19-38565126-C-CGCGGGCGCGGCGGAG
• gnomAD v4: 19-38565126-C-CGCGGGCGCGGCGGAG
• MyVariant Identifiers: chr19:g.39055781_39055782insGCGGGCGCGGCGGAG (hg19) ; chr19:g.39055766_39055767insGCGGGCGCGGCGGAG (hg19) ; chr19:g.38565141_38565142insGCGGGCGCGGCGGAG (hg38) ; chr19:g.38565126_38565127insGCGGGCGCGGCGGAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565137_38565151dup , CM000681.2:g.38565137_38565151dup	GRCh38
NC_000019.9:g.39055777_39055791dup , CM000681.1:g.39055777_39055791dup	GRCh37
NC_000019.8:g.43747617_43747631dup	NCBI36
NG_008866.1:g.136438_136452dup , LRG_766:g.136438_136452dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1213_1227dup
ENST00000689936.1:c.1195_1209dup
ENST00000359596.8:c.12803_12817dup MANE Select	ENSP00000352608.2:p.Ala4272_Glu4273insAlaGluAlaGlyAla
ENST00000355481.8:c.12788_12802dup	ENSP00000347667.3:p.Ala4267_Glu4268insAlaGluAlaGlyAla
ENST00000359596.7:c.12803_12817dup	ENSP00000352608.2:p.Ala4272_Glu4273insAlaGluAlaGlyAla
ENST00000360985.7:c.12785_12799dup	ENSP00000354254.4:p.Ala4266_Glu4267insAlaGluAlaGlyAla
ENST00000594335.5:c.6172_6186dup
NM_000540.2:c.12803_12817dup , LRG_766t1:c.12803_12817dup	NP_000531.2:p.Ala4272_Glu4273insAlaGluAlaGlyAla
NM_001042723.1:c.12788_12802dup	NP_001036188.1:p.Ala4267_Glu4268insAlaGluAlaGlyAla
XM_006723317.1:c.12785_12799dup	XP_006723380.1:p.Ala4266_Glu4267insAlaGluAlaGlyAla
XM_006723319.1:c.12770_12784dup	XP_006723382.1:p.Ala4261_Glu4262insAlaGluAlaGlyAla
XM_011527204.1:c.12800_12814dup	XP_011525506.1:p.Ala4271_Glu4272insAlaGluAlaGlyAla
XM_011527205.1:c.12803_12817dup	XP_011525507.1:p.Ala4272_Glu4273insAlaGluAlaGlyAla
XM_006723317.2:c.12785_12799dup	XP_006723380.1:p.Ala4266_Glu4267insAlaGluAlaGlyAla
XM_006723319.2:c.12770_12784dup	XP_006723382.1:p.Ala4261_Glu4262insAlaGluAlaGlyAla
XM_011527205.2:c.12803_12817dup	XP_011525507.1:p.Ala4272_Glu4273insAlaGluAlaGlyAla
NM_000540.3:c.12803_12817dup MANE Select	NP_000531.2:p.Ala4272_Glu4273insAlaGluAlaGlyAla
NM_001042723.2:c.12788_12802dup	NP_001036188.1:p.Ala4267_Glu4268insAlaGluAlaGlyAla