Canonical Allele Identifier: CA2335053147

Gene: RYR1

Linked Data

• dbSNP Id: rs1970044263

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38500230_38500263del , CM000681.2:g.38500230_38500263del	GRCh38
NC_000019.9:g.38990870_38990903del , CM000681.1:g.38990870_38990903del	GRCh37
NC_000019.8:g.43682710_43682743del	NCBI36
NG_008866.1:g.71531_71564del , LRG_766:g.71531_71564del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7323+214_7323+247del	ENSP00000471601.2:n.7323+214_7323+247del
ENST00000359596.8:c.7323+214_7323+247del MANE Select	ENSP00000352608.2:n.7323+214_7323+247del
ENST00000355481.8:c.7323+214_7323+247del	ENSP00000347667.3:n.7323+214_7323+247del
ENST00000359596.7:c.7323+214_7323+247del	ENSP00000352608.2:n.7323+214_7323+247del
ENST00000360985.7:c.7320+214_7320+247del	ENSP00000354254.4:n.7320+214_7320+247del
ENST00000594335.5:c.775+214_775+247del
NM_000540.2:c.7323+214_7323+247del , LRG_766t1:c.7323+214_7323+247del	NP_000531.2:n.7323+214_7323+247del
NM_001042723.1:c.7323+214_7323+247del	NP_001036188.1:n.7323+214_7323+247del
XM_006723317.1:c.7323+214_7323+247del	XP_006723380.1:n.7323+214_7323+247del
XM_006723319.1:c.7323+214_7323+247del	XP_006723382.1:n.7323+214_7323+247del
XM_011527204.1:c.7320+214_7320+247del	XP_011525506.1:n.7320+214_7320+247del
XM_011527205.1:c.7323+214_7323+247del	XP_011525507.1:n.7323+214_7323+247del
XM_006723317.2:c.7323+214_7323+247del	XP_006723380.1:n.7323+214_7323+247del
XM_006723319.2:c.7323+214_7323+247del	XP_006723382.1:n.7323+214_7323+247del
XM_011527205.2:c.7323+214_7323+247del	XP_011525507.1:n.7323+214_7323+247del
XR_001753735.1:n.7406+214_7406+247del
NM_000540.3:c.7323+214_7323+247del MANE Select	NP_000531.2:n.7323+214_7323+247del
NM_001042723.2:c.7323+214_7323+247del	NP_001036188.1:n.7323+214_7323+247del