Canonical Allele Identifier: CA633066812

Gene: RYR1

Linked Data

• dbSNP Id: rs1483453854
• gnomAD v2: 19-39055742-G-GCCGGAGA
• gnomAD v4: 19-38565102-G-GCCGGAGA
• MyVariant Identifiers: chr19:g.39055742_39055743insCCGGAGA (hg19) ; chr19:g.38565102_38565103insCCGGAGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565106_38565112dup , CM000681.2:g.38565106_38565112dup	GRCh38
NC_000019.9:g.39055746_39055752dup , CM000681.1:g.39055746_39055752dup	GRCh37
NC_000019.8:g.43747586_43747592dup	NCBI36
NG_008866.1:g.136407_136413dup , LRG_766:g.136407_136413dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1182_1188dup
ENST00000689936.1:c.1164_1170dup
ENST00000359596.8:c.12772_12778dup MANE Select	ENSP00000352608.2:p.Asp4260GlyfsTer?
ENST00000355481.8:c.12757_12763dup	ENSP00000347667.3:p.Asp4255GlyfsTer?
ENST00000359596.7:c.12772_12778dup	ENSP00000352608.2:p.Asp4260GlyfsTer?
ENST00000360985.7:c.12754_12760dup	ENSP00000354254.4:p.Asp4254GlyfsTer?
ENST00000594335.5:c.6141_6147dup
NM_000540.2:c.12772_12778dup , LRG_766t1:c.12772_12778dup	NP_000531.2:p.Asp4260GlyfsTer?
NM_001042723.1:c.12757_12763dup	NP_001036188.1:p.Asp4255GlyfsTer?
XM_006723317.1:c.12754_12760dup	XP_006723380.1:p.Asp4254GlyfsTer?
XM_006723319.1:c.12739_12745dup	XP_006723382.1:p.Asp4249GlyfsTer?
XM_011527204.1:c.12769_12775dup	XP_011525506.1:p.Asp4259GlyfsTer?
XM_011527205.1:c.12772_12778dup	XP_011525507.1:p.Asp4260GlyfsTer?
XM_006723317.2:c.12754_12760dup	XP_006723380.1:p.Asp4254GlyfsTer?
XM_006723319.2:c.12739_12745dup	XP_006723382.1:p.Asp4249GlyfsTer?
XM_011527205.2:c.12772_12778dup	XP_011525507.1:p.Asp4260GlyfsTer?
NM_000540.3:c.12772_12778dup MANE Select	NP_000531.2:p.Asp4260GlyfsTer?
NM_001042723.2:c.12757_12763dup	NP_001036188.1:p.Asp4255GlyfsTer?