Canonical Allele Identifier: CA995718381

Gene: RYR1

Linked Data

• gnomAD v3: 19-38502806-G-GCAGA
• gnomAD v4: 19-38502806-G-GCAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502806_38502807insCAGA , CM000681.2:g.38502806_38502807insCAGA	GRCh38
NC_000019.9:g.38993446_38993447insCAGA , CM000681.1:g.38993446_38993447insCAGA	GRCh37
NC_000019.8:g.43685286_43685287insCAGA	NCBI36
NG_008866.1:g.74107_74108insCAGA , LRG_766:g.74107_74108insCAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7836-74_7836-73insCAGA	ENSP00000471601.2:n.7836-74_7836-73insCAGA
ENST00000359596.8:c.7836-74_7836-73insCAGA MANE Select	ENSP00000352608.2:n.7836-74_7836-73insCAGA
ENST00000355481.8:c.7836-74_7836-73insCAGA	ENSP00000347667.3:n.7836-74_7836-73insCAGA
ENST00000359596.7:c.7836-74_7836-73insCAGA	ENSP00000352608.2:n.7836-74_7836-73insCAGA
ENST00000360985.7:c.7833-74_7833-73insCAGA	ENSP00000354254.4:n.7833-74_7833-73insCAGA
ENST00000594335.5:c.1288-74_1288-73insCAGA
NM_000540.2:c.7836-74_7836-73insCAGA , LRG_766t1:c.7836-74_7836-73insCAGA	NP_000531.2:n.7836-74_7836-73insCAGA
NM_001042723.1:c.7836-74_7836-73insCAGA	NP_001036188.1:n.7836-74_7836-73insCAGA
XM_006723317.1:c.7836-74_7836-73insCAGA	XP_006723380.1:n.7836-74_7836-73insCAGA
XM_006723319.1:c.7836-74_7836-73insCAGA	XP_006723382.1:n.7836-74_7836-73insCAGA
XM_011527204.1:c.7833-74_7833-73insCAGA	XP_011525506.1:n.7833-74_7833-73insCAGA
XM_011527205.1:c.7836-74_7836-73insCAGA	XP_011525507.1:n.7836-74_7836-73insCAGA
XM_006723317.2:c.7836-74_7836-73insCAGA	XP_006723380.1:n.7836-74_7836-73insCAGA
XM_006723319.2:c.7836-74_7836-73insCAGA	XP_006723382.1:n.7836-74_7836-73insCAGA
XM_011527205.2:c.7836-74_7836-73insCAGA	XP_011525507.1:n.7836-74_7836-73insCAGA
XR_001753735.1:n.7919-74_7919-73insCAGA
NM_000540.3:c.7836-74_7836-73insCAGA MANE Select	NP_000531.2:n.7836-74_7836-73insCAGA
NM_001042723.2:c.7836-74_7836-73insCAGA	NP_001036188.1:n.7836-74_7836-73insCAGA