Canonical Allele Identifier: CA633066132

Gene: RYR1

Linked Data

• dbSNP Id: rs1239711455
• gnomAD v2: 19-38990537-C-CTGTGTCTCTCTGGGCCTTCGTCTGCCTGCCA
• MyVariant Identifiers: chr19:g.38990537_38990538insTGTGTCTCTCTGGGCCTTCGTCTGCCTGCCA (hg19) ; chr19:g.38499897_38499898insTGTGTCTCTCTGGGCCTTCGTCTGCCTGCCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38499898_38499899insGTGTCTCTCTGGGCCTTCGTCTGCCTGCCAT , CM000681.2:g.38499898_38499899insGTGTCTCTCTGGGCCTTCGTCTGCCTGCCAT	GRCh38
NC_000019.9:g.38990538_38990539insGTGTCTCTCTGGGCCTTCGTCTGCCTGCCAT , CM000681.1:g.38990538_38990539insGTGTCTCTCTGGGCCTTCGTCTGCCTGCCAT	GRCh37
NC_000019.8:g.43682378_43682379insGTGTCTCTCTGGGCCTTCGTCTGCCTGCCAT	NCBI36
NG_008866.1:g.71199_71200insGTGTCTCTCTGGGCCTTCGTCTGCCTGCCAT , LRG_766:g.71199_71200insGTGTCTCTCTGGGCCTTCGTCTGCCTGCCAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000599547.6:c.7215-10_7215-9insGTGTCTCTCTGGGCCTTCGTCTGCCTGCCAT	ENSP00000471601.2:n.7215-10_7215-9insGTGT...
ENST00000359596.8:c.7215-10_7215-9insGTGTCTCTCTGGGCCTTCGTCTGCCTGCCAT MANE Select	ENSP00000352608.2:n.7215-10_7215-9insGTGT...
ENST00000355481.8:c.7215-10_7215-9insGTGTCTCTCTGGGCCTTCGTCTGCCTGCCAT	ENSP00000347667.3:n.7215-10_7215-9insGTGT...
ENST00000359596.7:c.7215-10_7215-9insGTGTCTCTCTGGGCCTTCGTCTGCCTGCCAT	ENSP00000352608.2:n.7215-10_7215-9insGTGT...
ENST00000360985.7:c.7212-10_7212-9insGTGTCTCTCTGGGCCTTCGTCTGCCTGCCAT	ENSP00000354254.4:n.7212-10_7212-9insGTGT...
ENST00000594335.5:c.667-10_667-9insGTGTCTCTCTGGGCCTTCGTCTGCCTGCCAT
NM_000540.2:c.7215-10_7215-9insGTGTCTCTCTGGGCCTTCGTCTGCCTGCCAT , LRG_766t1:c.7215-10_7215-9insGTGTCTCTCTGGGCCTTCGTCTGCCTGCCAT	NP_000531.2:n.7215-10_7215-9insGTGTCTCTCT...
NM_001042723.1:c.7215-10_7215-9insGTGTCTCTCTGGGCCTTCGTCTGCCTGCCAT	NP_001036188.1:n.7215-10_7215-9insGTGTCTC...
XM_006723317.1:c.7215-10_7215-9insGTGTCTCTCTGGGCCTTCGTCTGCCTGCCAT	XP_006723380.1:n.7215-10_7215-9insGTGTCTC...
XM_006723319.1:c.7215-10_7215-9insGTGTCTCTCTGGGCCTTCGTCTGCCTGCCAT	XP_006723382.1:n.7215-10_7215-9insGTGTCTC...
XM_011527204.1:c.7212-10_7212-9insGTGTCTCTCTGGGCCTTCGTCTGCCTGCCAT	XP_011525506.1:n.7212-10_7212-9insGTGTCTC...
XM_011527205.1:c.7215-10_7215-9insGTGTCTCTCTGGGCCTTCGTCTGCCTGCCAT	XP_011525507.1:n.7215-10_7215-9insGTGTCTC...
XM_006723317.2:c.7215-10_7215-9insGTGTCTCTCTGGGCCTTCGTCTGCCTGCCAT	XP_006723380.1:n.7215-10_7215-9insGTGTCTC...
XM_006723319.2:c.7215-10_7215-9insGTGTCTCTCTGGGCCTTCGTCTGCCTGCCAT	XP_006723382.1:n.7215-10_7215-9insGTGTCTC...
XM_011527205.2:c.7215-10_7215-9insGTGTCTCTCTGGGCCTTCGTCTGCCTGCCAT	XP_011525507.1:n.7215-10_7215-9insGTGTCTC...
XR_001753735.1:n.7298-10_7298-9insGTGTCTCTCTGGGCCTTCGTCTGCCTGCCAT
NM_000540.3:c.7215-10_7215-9insGTGTCTCTCTGGGCCTTCGTCTGCCTGCCAT MANE Select	NP_000531.2:n.7215-10_7215-9insGTGTCTCTCT...
NM_001042723.2:c.7215-10_7215-9insGTGTCTCTCTGGGCCTTCGTCTGCCTGCCAT	NP_001036188.1:n.7215-10_7215-9insGTGTCTC...