Canonical Allele Identifier: CA995717341

Gene: RYR1

Linked Data

• dbSNP Id: rs1970200492
• gnomAD v3: 19-38502746-C-CGG
• gnomAD v4: 19-38502746-C-CGG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502746_38502747insGG , CM000681.2:g.38502746_38502747insGG	GRCh38
NC_000019.9:g.38993386_38993387insGG , CM000681.1:g.38993386_38993387insGG	GRCh37
NC_000019.8:g.43685226_43685227insGG	NCBI36
NG_008866.1:g.74047_74048insGG , LRG_766:g.74047_74048insGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7835+19_7835+20insGG	ENSP00000471601.2:n.7835+19_7835+20insGG
ENST00000359596.8:c.7835+19_7835+20insGG MANE Select	ENSP00000352608.2:n.7835+19_7835+20insGG
ENST00000355481.8:c.7835+19_7835+20insGG	ENSP00000347667.3:n.7835+19_7835+20insGG
ENST00000359596.7:c.7835+19_7835+20insGG	ENSP00000352608.2:n.7835+19_7835+20insGG
ENST00000360985.7:c.7832+19_7832+20insGG	ENSP00000354254.4:n.7832+19_7832+20insGG
ENST00000594335.5:c.1287+19_1287+20insGG
NM_000540.2:c.7835+19_7835+20insGG , LRG_766t1:c.7835+19_7835+20insGG	NP_000531.2:n.7835+19_7835+20insGG
NM_001042723.1:c.7835+19_7835+20insGG	NP_001036188.1:n.7835+19_7835+20insGG
XM_006723317.1:c.7835+19_7835+20insGG	XP_006723380.1:n.7835+19_7835+20insGG
XM_006723319.1:c.7835+19_7835+20insGG	XP_006723382.1:n.7835+19_7835+20insGG
XM_011527204.1:c.7832+19_7832+20insGG	XP_011525506.1:n.7832+19_7832+20insGG
XM_011527205.1:c.7835+19_7835+20insGG	XP_011525507.1:n.7835+19_7835+20insGG
XM_006723317.2:c.7835+19_7835+20insGG	XP_006723380.1:n.7835+19_7835+20insGG
XM_006723319.2:c.7835+19_7835+20insGG	XP_006723382.1:n.7835+19_7835+20insGG
XM_011527205.2:c.7835+19_7835+20insGG	XP_011525507.1:n.7835+19_7835+20insGG
XR_001753735.1:n.7918+19_7918+20insGG
NM_000540.3:c.7835+19_7835+20insGG MANE Select	NP_000531.2:n.7835+19_7835+20insGG
NM_001042723.2:c.7835+19_7835+20insGG	NP_001036188.1:n.7835+19_7835+20insGG