Canonical Allele Identifier: CA2843139696

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580394dup , CM000681.2:g.38580394dup	GRCh38
NC_000019.9:g.39071034dup , CM000681.1:g.39071034dup	GRCh37
NC_000019.8:g.43762874dup	NCBI36
NG_008866.1:g.151695dup , LRG_766:g.151695dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1472dup
ENST00000688602.1:c.2869dup
ENST00000689936.1:c.2841dup
ENST00000359596.8:c.14536dup MANE Select	ENSP00000352608.2:p.Ala4846GlyfsTer25
ENST00000355481.8:c.14521dup	ENSP00000347667.3:p.Ala4841GlyfsTer25
ENST00000359596.7:c.14536dup	ENSP00000352608.2:p.Ala4846GlyfsTer25
ENST00000360985.7:c.14518dup	ENSP00000354254.4:p.Ala4840GlyfsTer25
NM_000540.2:c.14536dup , LRG_766t1:c.14536dup	NP_000531.2:p.Ala4846GlyfsTer25
NM_001042723.1:c.14521dup	NP_001036188.1:p.Ala4841GlyfsTer25
XM_006723317.1:c.14518dup	XP_006723380.1:p.Ala4840GlyfsTer25
XM_006723319.1:c.14503dup	XP_006723382.1:p.Ala4835GlyfsTer25
XM_011527204.1:c.14533dup	XP_011525506.1:p.Ala4845GlyfsTer25
XM_011527205.1:c.14449dup	XP_011525507.1:p.Ala4817GlyfsTer25
XM_006723317.2:c.14518dup	XP_006723380.1:p.Ala4840GlyfsTer25
XM_006723319.2:c.14503dup	XP_006723382.1:p.Ala4835GlyfsTer25
XM_011527205.2:c.14449dup	XP_011525507.1:p.Ala4817GlyfsTer25
NM_000540.3:c.14536dup MANE Select	NP_000531.2:p.Ala4846GlyfsTer25
NM_001042723.2:c.14521dup	NP_001036188.1:p.Ala4841GlyfsTer25