Canonical Allele Identifier: CA2335096121

Gene: RYR1

Linked Data

• dbSNP Id: rs1974544391

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38587360_38587362del , CM000681.2:g.38587360_38587362del	GRCh38
NC_000019.9:g.39078000_39078002del , CM000681.1:g.39078000_39078002del	GRCh37
NC_000019.8:g.43769840_43769842del	NCBI36
NG_008866.1:g.158661_158663del , LRG_766:g.158661_158663del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1957+784_1957+786del
ENST00000688602.1:c.3390_3392del
ENST00000689936.1:c.3362_3364del
ENST00000692547.1:n.450_452del
ENST00000359596.8:c.15057_15059del MANE Select	ENSP00000352608.2:p.Cys5019del
ENST00000355481.8:c.15042_15044del	ENSP00000347667.3:p.Cys5014del
ENST00000359596.7:c.15057_15059del	ENSP00000352608.2:p.Cys5019del
ENST00000360985.7:c.15039_15041del	ENSP00000354254.4:p.Cys5013del
NM_000540.2:c.15057_15059del , LRG_766t1:c.15057_15059del	NP_000531.2:p.Cys5019del
NM_001042723.1:c.15042_15044del	NP_001036188.1:p.Cys5014del
XM_006723317.1:c.15039_15041del	XP_006723380.1:p.Cys5013del
XM_006723319.1:c.15024_15026del	XP_006723382.1:p.Cys5008del
XM_011527204.1:c.15054_15056del	XP_011525506.1:p.Cys5018del
XM_011527205.1:c.14970_14972del	XP_011525507.1:p.Cys4990del
XM_006723317.2:c.15039_15041del	XP_006723380.1:p.Cys5013del
XM_006723319.2:c.15024_15026del	XP_006723382.1:p.Cys5008del
XM_011527205.2:c.14970_14972del	XP_011525507.1:p.Cys4990del
NM_000540.3:c.15057_15059del MANE Select	NP_000531.2:p.Cys5019del
NM_001042723.2:c.15042_15044del	NP_001036188.1:p.Cys5014del