Canonical Allele Identifier: CA2736032148

Gene: RYR1

Linked Data

• dbSNP Id: rs2145681502

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38517356_38517357del , CM000681.2:g.38517356_38517357del	GRCh38
NC_000019.9:g.39007996_39007997del , CM000681.1:g.39007996_39007997del	GRCh37
NC_000019.8:g.43699836_43699837del	NCBI36
NG_008866.1:g.88657_88658del , LRG_766:g.88657_88658del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.9625-3_9625-2del	ENSP00000471601.2:n.9625-3_9625-2del
ENST00000359596.8:c.9686-3_9686-2del MANE Select	ENSP00000352608.2:n.9686-3_9686-2del
ENST00000355481.8:c.9686-3_9686-2del	ENSP00000347667.3:n.9686-3_9686-2del
ENST00000359596.7:c.9686-3_9686-2del	ENSP00000352608.2:n.9686-3_9686-2del
ENST00000360985.7:c.9683-3_9683-2del	ENSP00000354254.4:n.9683-3_9683-2del
ENST00000594335.5:c.3088-3_3088-2del
ENST00000599547.5:c.493-3_493-2del
NM_000540.2:c.9686-3_9686-2del , LRG_766t1:c.9686-3_9686-2del	NP_000531.2:n.9686-3_9686-2del
NM_001042723.1:c.9686-3_9686-2del	NP_001036188.1:n.9686-3_9686-2del
XM_006723317.1:c.9686-3_9686-2del	XP_006723380.1:n.9686-3_9686-2del
XM_006723319.1:c.9686-3_9686-2del	XP_006723382.1:n.9686-3_9686-2del
XM_011527204.1:c.9683-3_9683-2del	XP_011525506.1:n.9683-3_9683-2del
XM_011527205.1:c.9686-3_9686-2del	XP_011525507.1:n.9686-3_9686-2del
XM_006723317.2:c.9686-3_9686-2del	XP_006723380.1:n.9686-3_9686-2del
XM_006723319.2:c.9686-3_9686-2del	XP_006723382.1:n.9686-3_9686-2del
XM_011527205.2:c.9686-3_9686-2del	XP_011525507.1:n.9686-3_9686-2del
XR_001753735.1:n.9719-3_9719-2del
NM_000540.3:c.9686-3_9686-2del MANE Select	NP_000531.2:n.9686-3_9686-2del
NM_001042723.2:c.9686-3_9686-2del	NP_001036188.1:n.9686-3_9686-2del