Canonical Allele Identifier: CA2697556575

Gene: RYR1

Linked Data

• ClinVar Variation Id: 2722910
• ClinVar RCV Id: RCV003592958

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38499815_38499816delinsAT , CM000681.2:g.38499815_38499816delinsAT	GRCh38
NC_000019.9:g.38990455_38990456delinsAT , CM000681.1:g.38990455_38990456delinsAT	GRCh37
NC_000019.8:g.43682295_43682296delinsAT	NCBI36
NG_008866.1:g.71116_71117delinsAT , LRG_766:g.71116_71117delinsAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000599547.6:c.7208_7209delinsAT	ENSP00000471601.2:p.Arg2403His
ENST00000359596.8:c.7208_7209delinsAT MANE Select	ENSP00000352608.2:p.Arg2403His
ENST00000355481.8:c.7208_7209delinsAT	ENSP00000347667.3:p.Arg2403His
ENST00000359596.7:c.7208_7209delinsAT	ENSP00000352608.2:p.Arg2403His
ENST00000360985.7:c.7205_7206delinsAT	ENSP00000354254.4:p.Arg2402His
ENST00000594335.5:c.660_661delinsAT
NM_000540.2:c.7208_7209delinsAT , LRG_766t1:c.7208_7209delinsAT	NP_000531.2:p.Arg2403His
NM_001042723.1:c.7208_7209delinsAT	NP_001036188.1:p.Arg2403His
XM_006723317.1:c.7208_7209delinsAT	XP_006723380.1:p.Arg2403His
XM_006723319.1:c.7208_7209delinsAT	XP_006723382.1:p.Arg2403His
XM_011527204.1:c.7205_7206delinsAT	XP_011525506.1:p.Arg2402His
XM_011527205.1:c.7208_7209delinsAT	XP_011525507.1:p.Arg2403His
XM_006723317.2:c.7208_7209delinsAT	XP_006723380.1:p.Arg2403His
XM_006723319.2:c.7208_7209delinsAT	XP_006723382.1:p.Arg2403His
XM_011527205.2:c.7208_7209delinsAT	XP_011525507.1:p.Arg2403His
XR_001753735.1:n.7291_7292delinsAT
NM_000540.3:c.7208_7209delinsAT MANE Select	NP_000531.2:p.Arg2403His
NM_001042723.2:c.7208_7209delinsAT	NP_001036188.1:p.Arg2403His