Canonical Allele Identifier: CA995718936

Gene: RYR1

Linked Data

• gnomAD v3: 19-38502832-A-AGGG
• gnomAD v4: 19-38502832-A-AGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502833_38502834insGGG , CM000681.2:g.38502833_38502834insGGG	GRCh38
NC_000019.9:g.38993473_38993474insGGG , CM000681.1:g.38993473_38993474insGGG	GRCh37
NC_000019.8:g.43685313_43685314insGGG	NCBI36
NG_008866.1:g.74134_74135insGGG , LRG_766:g.74134_74135insGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7836-47_7836-46insGGG	ENSP00000471601.2:n.7836-47_7836-46insGGG
ENST00000359596.8:c.7836-47_7836-46insGGG MANE Select	ENSP00000352608.2:n.7836-47_7836-46insGGG
ENST00000355481.8:c.7836-47_7836-46insGGG	ENSP00000347667.3:n.7836-47_7836-46insGGG
ENST00000359596.7:c.7836-47_7836-46insGGG	ENSP00000352608.2:n.7836-47_7836-46insGGG
ENST00000360985.7:c.7833-47_7833-46insGGG	ENSP00000354254.4:n.7833-47_7833-46insGGG
ENST00000594335.5:c.1288-47_1288-46insGGG
NM_000540.2:c.7836-47_7836-46insGGG , LRG_766t1:c.7836-47_7836-46insGGG	NP_000531.2:n.7836-47_7836-46insGGG
NM_001042723.1:c.7836-47_7836-46insGGG	NP_001036188.1:n.7836-47_7836-46insGGG
XM_006723317.1:c.7836-47_7836-46insGGG	XP_006723380.1:n.7836-47_7836-46insGGG
XM_006723319.1:c.7836-47_7836-46insGGG	XP_006723382.1:n.7836-47_7836-46insGGG
XM_011527204.1:c.7833-47_7833-46insGGG	XP_011525506.1:n.7833-47_7833-46insGGG
XM_011527205.1:c.7836-47_7836-46insGGG	XP_011525507.1:n.7836-47_7836-46insGGG
XM_006723317.2:c.7836-47_7836-46insGGG	XP_006723380.1:n.7836-47_7836-46insGGG
XM_006723319.2:c.7836-47_7836-46insGGG	XP_006723382.1:n.7836-47_7836-46insGGG
XM_011527205.2:c.7836-47_7836-46insGGG	XP_011525507.1:n.7836-47_7836-46insGGG
XR_001753735.1:n.7919-47_7919-46insGGG
NM_000540.3:c.7836-47_7836-46insGGG MANE Select	NP_000531.2:n.7836-47_7836-46insGGG
NM_001042723.2:c.7836-47_7836-46insGGG	NP_001036188.1:n.7836-47_7836-46insGGG