Canonical Allele Identifier: CA2814346365

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580383dup , CM000681.2:g.38580383dup	GRCh38
NC_000019.9:g.39071023dup , CM000681.1:g.39071023dup	GRCh37
NC_000019.8:g.43762863dup	NCBI36
NG_008866.1:g.151684dup , LRG_766:g.151684dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1461dup
ENST00000688602.1:c.2858dup
ENST00000689936.1:c.2830dup
ENST00000359596.8:c.14525dup MANE Select	ENSP00000352608.2:p.Leu4844ProfsTer27
ENST00000355481.8:c.14510dup	ENSP00000347667.3:p.Leu4839ProfsTer27
ENST00000359596.7:c.14525dup	ENSP00000352608.2:p.Leu4844ProfsTer27
ENST00000360985.7:c.14507dup	ENSP00000354254.4:p.Leu4838ProfsTer27
NM_000540.2:c.14525dup , LRG_766t1:c.14525dup	NP_000531.2:p.Leu4844ProfsTer27
NM_001042723.1:c.14510dup	NP_001036188.1:p.Leu4839ProfsTer27
XM_006723317.1:c.14507dup	XP_006723380.1:p.Leu4838ProfsTer27
XM_006723319.1:c.14492dup	XP_006723382.1:p.Leu4833ProfsTer27
XM_011527204.1:c.14522dup	XP_011525506.1:p.Leu4843ProfsTer27
XM_011527205.1:c.14438dup	XP_011525507.1:p.Leu4815ProfsTer27
XM_006723317.2:c.14507dup	XP_006723380.1:p.Leu4838ProfsTer27
XM_006723319.2:c.14492dup	XP_006723382.1:p.Leu4833ProfsTer27
XM_011527205.2:c.14438dup	XP_011525507.1:p.Leu4815ProfsTer27
NM_000540.3:c.14525dup MANE Select	NP_000531.2:p.Leu4844ProfsTer27
NM_001042723.2:c.14510dup	NP_001036188.1:p.Leu4839ProfsTer27