Canonical Allele Identifier: CA2584909154

Gene: RYR1

Linked Data

• gnomAD v4: 19-38565500-A-ACGAGGTGCACGG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565505_38565516dup , CM000681.2:g.38565505_38565516dup	GRCh38
NC_000019.9:g.39056145_39056156dup , CM000681.1:g.39056145_39056156dup	GRCh37
NC_000019.8:g.43747985_43747996dup	NCBI36
NG_008866.1:g.136806_136817dup , LRG_766:g.136806_136817dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.107_118dup
ENST00000688602.1:c.1581_1592dup
ENST00000689936.1:c.1563_1574dup
ENST00000359596.8:c.13171_13182dup MANE Select	ENSP00000352608.2:p.Glu4394_Gln4395insValHisGlyGlu
ENST00000355481.8:c.13156_13167dup	ENSP00000347667.3:p.Glu4389_Gln4390insValHisGlyGlu
ENST00000359596.7:c.13171_13182dup	ENSP00000352608.2:p.Glu4394_Gln4395insValHisGlyGlu
ENST00000360985.7:c.13153_13164dup	ENSP00000354254.4:p.Glu4388_Gln4389insValHisGlyGlu
NM_000540.2:c.13171_13182dup , LRG_766t1:c.13171_13182dup	NP_000531.2:p.Glu4394_Gln4395insValHisGlyGlu
NM_001042723.1:c.13156_13167dup	NP_001036188.1:p.Glu4389_Gln4390insValHisGlyGlu
XM_006723317.1:c.13153_13164dup	XP_006723380.1:p.Glu4388_Gln4389insValHisGlyGlu
XM_006723319.1:c.13138_13149dup	XP_006723382.1:p.Glu4383_Gln4384insValHisGlyGlu
XM_011527204.1:c.13168_13179dup	XP_011525506.1:p.Glu4393_Gln4394insValHisGlyGlu
XM_011527205.1:c.13171_13182dup	XP_011525507.1:p.Glu4394_Gln4395insValHisGlyGlu
XM_006723317.2:c.13153_13164dup	XP_006723380.1:p.Glu4388_Gln4389insValHisGlyGlu
XM_006723319.2:c.13138_13149dup	XP_006723382.1:p.Glu4383_Gln4384insValHisGlyGlu
XM_011527205.2:c.13171_13182dup	XP_011525507.1:p.Glu4394_Gln4395insValHisGlyGlu
NM_000540.3:c.13171_13182dup MANE Select	NP_000531.2:p.Glu4394_Gln4395insValHisGlyGlu
NM_001042723.2:c.13156_13167dup	NP_001036188.1:p.Glu4389_Gln4390insValHisGlyGlu