Canonical Allele Identifier: CA995718058

Gene: RYR1

Linked Data

• dbSNP Id: rs1491495422
• gnomAD v3: 19-38502792-C-CAGGGGGAGGAGG
• gnomAD v4: 19-38502792-C-CAGGGGGAGGAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502797_38502798insGAGGAGGAGGGG , CM000681.2:g.38502797_38502798insGAGGAGGAGGGG	GRCh38
NC_000019.9:g.38993437_38993438insGAGGAGGAGGGG , CM000681.1:g.38993437_38993438insGAGGAGGAGGGG	GRCh37
NC_000019.8:g.43685277_43685278insGAGGAGGAGGGG	NCBI36
NG_008866.1:g.74098_74099insGAGGAGGAGGGG , LRG_766:g.74098_74099insGAGGAGGAGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7835+70_7835+71insGAGGAGGAGGGG	ENSP00000471601.2:n.7835+70_7835+71insGAGGAGGAGGGG
ENST00000359596.8:c.7835+70_7835+71insGAGGAGGAGGGG MANE Select	ENSP00000352608.2:n.7835+70_7835+71insGAGGAGGAGGGG
ENST00000355481.8:c.7835+70_7835+71insGAGGAGGAGGGG	ENSP00000347667.3:n.7835+70_7835+71insGAGGAGGAGGGG
ENST00000359596.7:c.7835+70_7835+71insGAGGAGGAGGGG	ENSP00000352608.2:n.7835+70_7835+71insGAGGAGGAGGGG
ENST00000360985.7:c.7832+70_7832+71insGAGGAGGAGGGG	ENSP00000354254.4:n.7832+70_7832+71insGAGGAGGAGGGG
ENST00000594335.5:c.1287+70_1287+71insGAGGAGGAGGGG
NM_000540.2:c.7835+70_7835+71insGAGGAGGAGGGG , LRG_766t1:c.7835+70_7835+71insGAGGAGGAGGGG	NP_000531.2:n.7835+70_7835+71insGAGGAGGAGGGG
NM_001042723.1:c.7835+70_7835+71insGAGGAGGAGGGG	NP_001036188.1:n.7835+70_7835+71insGAGGAGGAGGGG
XM_006723317.1:c.7835+70_7835+71insGAGGAGGAGGGG	XP_006723380.1:n.7835+70_7835+71insGAGGAGGAGGGG
XM_006723319.1:c.7835+70_7835+71insGAGGAGGAGGGG	XP_006723382.1:n.7835+70_7835+71insGAGGAGGAGGGG
XM_011527204.1:c.7832+70_7832+71insGAGGAGGAGGGG	XP_011525506.1:n.7832+70_7832+71insGAGGAGGAGGGG
XM_011527205.1:c.7835+70_7835+71insGAGGAGGAGGGG	XP_011525507.1:n.7835+70_7835+71insGAGGAGGAGGGG
XM_006723317.2:c.7835+70_7835+71insGAGGAGGAGGGG	XP_006723380.1:n.7835+70_7835+71insGAGGAGGAGGGG
XM_006723319.2:c.7835+70_7835+71insGAGGAGGAGGGG	XP_006723382.1:n.7835+70_7835+71insGAGGAGGAGGGG
XM_011527205.2:c.7835+70_7835+71insGAGGAGGAGGGG	XP_011525507.1:n.7835+70_7835+71insGAGGAGGAGGGG
XR_001753735.1:n.7918+70_7918+71insGAGGAGGAGGGG
NM_000540.3:c.7835+70_7835+71insGAGGAGGAGGGG MANE Select	NP_000531.2:n.7835+70_7835+71insGAGGAGGAGGGG
NM_001042723.2:c.7835+70_7835+71insGAGGAGGAGGGG	NP_001036188.1:n.7835+70_7835+71insGAGGAGGAGGGG