Canonical Allele Identifier: CA995718021

Gene: RYR1

Linked Data

• dbSNP Id: rs1970225551
• gnomAD v3: 19-38502790-G-GGCAGGGGGAGGA
• gnomAD v4: 19-38502790-G-GGCAGGGGGAGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502797_38502798insGAGGAGCAGGGG , CM000681.2:g.38502797_38502798insGAGGAGCAGGGG	GRCh38
NC_000019.9:g.38993437_38993438insGAGGAGCAGGGG , CM000681.1:g.38993437_38993438insGAGGAGCAGGGG	GRCh37
NC_000019.8:g.43685277_43685278insGAGGAGCAGGGG	NCBI36
NG_008866.1:g.74098_74099insGAGGAGCAGGGG , LRG_766:g.74098_74099insGAGGAGCAGGGG

Transcript Alleles

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