Canonical Allele Identifier: CA915953153

Gene: RYR1

Linked Data

• ClinVar Variation Id: 646087
• ClinVar RCV Id: RCV000800305
• dbSNP Id: rs1599635941
• gnomAD v3: 19-38565555-T-TGCCAGCGAGGGC
• gnomAD v4: 19-38565555-T-TGCCAGCGAGGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565558_38565569dup , CM000681.2:g.38565558_38565569dup	GRCh38
NC_000019.9:g.39056198_39056209dup , CM000681.1:g.39056198_39056209dup	GRCh37
NC_000019.8:g.43748038_43748049dup	NCBI36
NG_008866.1:g.136859_136870dup , LRG_766:g.136859_136870dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.160_171dup
ENST00000688602.1:c.1634_1645dup
ENST00000689936.1:c.1616_1627dup
ENST00000359596.8:c.13224_13235dup MANE Select	ENSP00000352608.2:p.Ala4412_Gly4413insSerGluGlyAla
ENST00000355481.8:c.13209_13220dup	ENSP00000347667.3:p.Ala4407_Gly4408insSerGluGlyAla
ENST00000359596.7:c.13224_13235dup	ENSP00000352608.2:p.Ala4412_Gly4413insSerGluGlyAla
ENST00000360985.7:c.13206_13217dup	ENSP00000354254.4:p.Ala4406_Gly4407insSerGluGlyAla
NM_000540.2:c.13224_13235dup , LRG_766t1:c.13224_13235dup	NP_000531.2:p.Ala4412_Gly4413insSerGluGlyAla
NM_001042723.1:c.13209_13220dup	NP_001036188.1:p.Ala4407_Gly4408insSerGluGlyAla
XM_006723317.1:c.13206_13217dup	XP_006723380.1:p.Ala4406_Gly4407insSerGluGlyAla
XM_006723319.1:c.13191_13202dup	XP_006723382.1:p.Ala4401_Gly4402insSerGluGlyAla
XM_011527204.1:c.13221_13232dup	XP_011525506.1:p.Ala4411_Gly4412insSerGluGlyAla
XM_011527205.1:c.13224_13235dup	XP_011525507.1:p.Ala4412_Gly4413insSerGluGlyAla
XM_006723317.2:c.13206_13217dup	XP_006723380.1:p.Ala4406_Gly4407insSerGluGlyAla
XM_006723319.2:c.13191_13202dup	XP_006723382.1:p.Ala4401_Gly4402insSerGluGlyAla
XM_011527205.2:c.13224_13235dup	XP_011525507.1:p.Ala4412_Gly4413insSerGluGlyAla
NM_000540.3:c.13224_13235dup MANE Select	NP_000531.2:p.Ala4412_Gly4413insSerGluGlyAla
NM_001042723.2:c.13209_13220dup	NP_001036188.1:p.Ala4407_Gly4408insSerGluGlyAla