Canonical Allele Identifier: CA2335062010

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38517401_38517402delinsTC , CM000681.2:g.38517401_38517402delinsTC	GRCh38
NC_000019.9:g.39008041_39008042delinsTC , CM000681.1:g.39008041_39008042delinsTC	GRCh37
NC_000019.8:g.43699881_43699882delinsTC	NCBI36
NG_008866.1:g.88702_88703delinsTC , LRG_766:g.88702_88703delinsTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000599547.6:c.9667_9668delinsTC	ENSP00000471601.2:n.9667_9668delinsTC
ENST00000359596.8:c.9728_9729delinsTC MANE Select	ENSP00000352608.2:p.Ile3243=
ENST00000355481.8:c.9728_9729delinsTC	ENSP00000347667.3:p.Ile3243=
ENST00000359596.7:c.9728_9729delinsTC	ENSP00000352608.2:p.Ile3243=
ENST00000360985.7:c.9725_9726delinsTC	ENSP00000354254.4:p.Ile3242=
ENST00000594335.5:c.3130_3131delinsTC
ENST00000599547.5:c.535_536delinsTC
NM_000540.2:c.9728_9729delinsTC , LRG_766t1:c.9728_9729delinsTC	NP_000531.2:p.Ile3243=
NM_001042723.1:c.9728_9729delinsTC	NP_001036188.1:p.Ile3243=
XM_006723317.1:c.9728_9729delinsTC	XP_006723380.1:p.Ile3243=
XM_006723319.1:c.9728_9729delinsTC	XP_006723382.1:p.Ile3243=
XM_011527204.1:c.9725_9726delinsTC	XP_011525506.1:p.Ile3242=
XM_011527205.1:c.9728_9729delinsTC	XP_011525507.1:p.Ile3243=
XM_006723317.2:c.9728_9729delinsTC	XP_006723380.1:p.Ile3243=
XM_006723319.2:c.9728_9729delinsTC	XP_006723382.1:p.Ile3243=
XM_011527205.2:c.9728_9729delinsTC	XP_011525507.1:p.Ile3243=
XR_001753735.1:n.9761_9762delinsTC
NM_000540.3:c.9728_9729delinsTC MANE Select	NP_000531.2:p.Ile3243=
NM_001042723.2:c.9728_9729delinsTC	NP_001036188.1:p.Ile3243=