Canonical Allele Identifier: CA2335074323

Gene: RYR1

Linked Data

• dbSNP Id: rs1972284596
• gnomAD v4: 19-38543395-ACAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543402_38543404del , CM000681.2:g.38543402_38543404del	GRCh38
NC_000019.9:g.39034042_39034044del , CM000681.1:g.39034042_39034044del	GRCh37
NC_000019.8:g.43725882_43725884del	NCBI36
NG_008866.1:g.114703_114705del , LRG_766:g.114703_114705del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.155_157del
ENST00000689936.1:c.137_139del
ENST00000359596.8:c.11745_11747del MANE Select	ENSP00000352608.2:p.Ile3916del
ENST00000355481.8:c.11730_11732del	ENSP00000347667.3:p.Ile3911del
ENST00000359596.7:c.11745_11747del	ENSP00000352608.2:p.Ile3916del
ENST00000360985.7:c.11727_11729del	ENSP00000354254.4:p.Ile3910del
ENST00000593322.1:c.354_356del
ENST00000594335.5:c.5114_5116del
NM_000540.2:c.11745_11747del , LRG_766t1:c.11745_11747del	NP_000531.2:p.Ile3916del
NM_001042723.1:c.11730_11732del	NP_001036188.1:p.Ile3911del
XM_006723317.1:c.11727_11729del	XP_006723380.1:p.Ile3910del
XM_006723319.1:c.11712_11714del	XP_006723382.1:p.Ile3905del
XM_011527204.1:c.11742_11744del	XP_011525506.1:p.Ile3915del
XM_011527205.1:c.11745_11747del	XP_011525507.1:p.Ile3916del
XM_006723317.2:c.11727_11729del	XP_006723380.1:p.Ile3910del
XM_006723319.2:c.11712_11714del	XP_006723382.1:p.Ile3905del
XM_011527205.2:c.11745_11747del	XP_011525507.1:p.Ile3916del
NM_000540.3:c.11745_11747del MANE Select	NP_000531.2:p.Ile3916del
NM_001042723.2:c.11730_11732del	NP_001036188.1:p.Ile3911del