Canonical Allele Identifier: CA507355606

Gene: RYR1

Linked Data

• dbSNP Id: rs1463161041
• gnomAD v2: 19-39055759-A-ACGAGGG
• gnomAD v3: 19-38565119-A-ACGAGGG
• gnomAD v4: 19-38565119-A-ACGAGGG
• MyVariant Identifiers: chr19:g.39055759_39055760insCGAGGG (hg19) ; chr19:g.38565119_38565120insCGAGGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565122_38565127dup , CM000681.2:g.38565122_38565127dup	GRCh38
NC_000019.9:g.39055762_39055767dup , CM000681.1:g.39055762_39055767dup	GRCh37
NC_000019.8:g.43747602_43747607dup	NCBI36
NG_008866.1:g.136423_136428dup , LRG_766:g.136423_136428dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1198_1203dup
ENST00000689936.1:c.1180_1185dup
ENST00000359596.8:c.12788_12793dup MANE Select	ENSP00000352608.2:p.Gly4264_Ala4265insGluGly
ENST00000355481.8:c.12773_12778dup	ENSP00000347667.3:p.Gly4259_Ala4260insGluGly
ENST00000359596.7:c.12788_12793dup	ENSP00000352608.2:p.Gly4264_Ala4265insGluGly
ENST00000360985.7:c.12770_12775dup	ENSP00000354254.4:p.Gly4258_Ala4259insGluGly
ENST00000594335.5:c.6157_6162dup
NM_000540.2:c.12788_12793dup , LRG_766t1:c.12788_12793dup	NP_000531.2:p.Gly4264_Ala4265insGluGly
NM_001042723.1:c.12773_12778dup	NP_001036188.1:p.Gly4259_Ala4260insGluGly
XM_006723317.1:c.12770_12775dup	XP_006723380.1:p.Gly4258_Ala4259insGluGly
XM_006723319.1:c.12755_12760dup	XP_006723382.1:p.Gly4253_Ala4254insGluGly
XM_011527204.1:c.12785_12790dup	XP_011525506.1:p.Gly4263_Ala4264insGluGly
XM_011527205.1:c.12788_12793dup	XP_011525507.1:p.Gly4264_Ala4265insGluGly
XM_006723317.2:c.12770_12775dup	XP_006723380.1:p.Gly4258_Ala4259insGluGly
XM_006723319.2:c.12755_12760dup	XP_006723382.1:p.Gly4253_Ala4254insGluGly
XM_011527205.2:c.12788_12793dup	XP_011525507.1:p.Gly4264_Ala4265insGluGly
NM_000540.3:c.12788_12793dup MANE Select	NP_000531.2:p.Gly4264_Ala4265insGluGly
NM_001042723.2:c.12773_12778dup	NP_001036188.1:p.Gly4259_Ala4260insGluGly