Canonical Allele Identifier: CA2335092446

Gene: RYR1

Linked Data

• dbSNP Id: rs1974145579

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580379_38580381dup , CM000681.2:g.38580379_38580381dup	GRCh38
NC_000019.9:g.39071019_39071021dup , CM000681.1:g.39071019_39071021dup	GRCh37
NC_000019.8:g.43762859_43762861dup	NCBI36
NG_008866.1:g.151680_151682dup , LRG_766:g.151680_151682dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1457_1459dup
ENST00000688602.1:c.2854_2856dup
ENST00000689936.1:c.2826_2828dup
ENST00000359596.8:c.14521_14523dup MANE Select	ENSP00000352608.2:p.Thr4841_Val4842insThr...
ENST00000355481.8:c.14506_14508dup	ENSP00000347667.3:p.Thr4836_Val4837insThr...
ENST00000359596.7:c.14521_14523dup	ENSP00000352608.2:p.Thr4841_Val4842insThr...
ENST00000360985.7:c.14503_14505dup	ENSP00000354254.4:p.Thr4835_Val4836insThr...
NM_000540.2:c.14521_14523dup , LRG_766t1:c.14521_14523dup	NP_000531.2:p.Thr4841_Val4842insThr
NM_001042723.1:c.14506_14508dup	NP_001036188.1:p.Thr4836_Val4837insThr
XM_006723317.1:c.14503_14505dup	XP_006723380.1:p.Thr4835_Val4836insThr
XM_006723319.1:c.14488_14490dup	XP_006723382.1:p.Thr4830_Val4831insThr
XM_011527204.1:c.14518_14520dup	XP_011525506.1:p.Thr4840_Val4841insThr
XM_011527205.1:c.14434_14436dup	XP_011525507.1:p.Thr4812_Val4813insThr
XM_006723317.2:c.14503_14505dup	XP_006723380.1:p.Thr4835_Val4836insThr
XM_006723319.2:c.14488_14490dup	XP_006723382.1:p.Thr4830_Val4831insThr
XM_011527205.2:c.14434_14436dup	XP_011525507.1:p.Thr4812_Val4813insThr
NM_000540.3:c.14521_14523dup MANE Select	NP_000531.2:p.Thr4841_Val4842insThr
NM_001042723.2:c.14506_14508dup	NP_001036188.1:p.Thr4836_Val4837insThr