Canonical Allele Identifier: CA2843407544

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543665_38543666insATGTACTCAGTGAG , CM000681.2:g.38543665_38543666insATGTACTCAGTGAG	GRCh38
NC_000019.9:g.39034305_39034306insATGTACTCAGTGAG , CM000681.1:g.39034305_39034306insATGTACTCAGTGAG	GRCh37
NC_000019.8:g.43726145_43726146insATGTACTCAGTGAG	NCBI36
NG_008866.1:g.114966_114967insATGTACTCAGTGAG , LRG_766:g.114966_114967insATGTACTCAGTGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.317+5_317+6insATGTACTCAGTGAG
ENST00000689936.1:c.299+5_299+6insATGTACTCAGTGAG
ENST00000359596.8:c.11907+5_11907+6insATGTACTCAGTGAG MANE Select	ENSP00000352608.2:n.11907+5_11907+6insATGTACTCAGTGAG
ENST00000355481.8:c.11892+5_11892+6insATGTACTCAGTGAG	ENSP00000347667.3:n.11892+5_11892+6insATGTACTCAGTGAG
ENST00000359596.7:c.11907+5_11907+6insATGTACTCAGTGAG	ENSP00000352608.2:n.11907+5_11907+6insATGTACTCAGTGAG
ENST00000360985.7:c.11889+5_11889+6insATGTACTCAGTGAG	ENSP00000354254.4:n.11889+5_11889+6insATGTACTCAGTGAG
ENST00000593322.1:c.516+5_516+6insATGTACTCAGTGAG
ENST00000594335.5:c.5276+5_5276+6insATGTACTCAGTGAG
NM_000540.2:c.11907+5_11907+6insATGTACTCAGTGAG , LRG_766t1:c.11907+5_11907+6insATGTACTCAGTGAG	NP_000531.2:n.11907+5_11907+6insATGTACTCAGTGAG
NM_001042723.1:c.11892+5_11892+6insATGTACTCAGTGAG	NP_001036188.1:n.11892+5_11892+6insATGTACTCAGTGAG
XM_006723317.1:c.11889+5_11889+6insATGTACTCAGTGAG	XP_006723380.1:n.11889+5_11889+6insATGTACTCAGTGAG
XM_006723319.1:c.11874+5_11874+6insATGTACTCAGTGAG	XP_006723382.1:n.11874+5_11874+6insATGTACTCAGTGAG
XM_011527204.1:c.11904+5_11904+6insATGTACTCAGTGAG	XP_011525506.1:n.11904+5_11904+6insATGTACTCAGTGAG
XM_011527205.1:c.11907+5_11907+6insATGTACTCAGTGAG	XP_011525507.1:n.11907+5_11907+6insATGTACTCAGTGAG
XM_006723317.2:c.11889+5_11889+6insATGTACTCAGTGAG	XP_006723380.1:n.11889+5_11889+6insATGTACTCAGTGAG
XM_006723319.2:c.11874+5_11874+6insATGTACTCAGTGAG	XP_006723382.1:n.11874+5_11874+6insATGTACTCAGTGAG
XM_011527205.2:c.11907+5_11907+6insATGTACTCAGTGAG	XP_011525507.1:n.11907+5_11907+6insATGTACTCAGTGAG
NM_000540.3:c.11907+5_11907+6insATGTACTCAGTGAG MANE Select	NP_000531.2:n.11907+5_11907+6insATGTACTCAGTGAG
NM_001042723.2:c.11892+5_11892+6insATGTACTCAGTGAG	NP_001036188.1:n.11892+5_11892+6insATGTACTCAGTGAG