Canonical Allele Identifier: CA2335092477

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580437_38580438delinsTC , CM000681.2:g.38580437_38580438delinsTC	GRCh38
NC_000019.9:g.39071077_39071078delinsTC , CM000681.1:g.39071077_39071078delinsTC	GRCh37
NC_000019.8:g.43762917_43762918delinsTC	NCBI36
NG_008866.1:g.151738_151739delinsTC , LRG_766:g.151738_151739delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1515_1516delinsTC
ENST00000688602.1:c.2912_2913delinsTC
ENST00000689936.1:c.2884_2885delinsTC
ENST00000359596.8:c.14579_14580delinsTC MANE Select	ENSP00000352608.2:p.Phe4860=
ENST00000355481.8:c.14564_14565delinsTC	ENSP00000347667.3:p.Phe4855=
ENST00000359596.7:c.14579_14580delinsTC	ENSP00000352608.2:p.Phe4860=
ENST00000360985.7:c.14561_14562delinsTC	ENSP00000354254.4:p.Phe4854=
NM_000540.2:c.14579_14580delinsTC , LRG_766t1:c.14579_14580delinsTC	NP_000531.2:p.Phe4860=
NM_001042723.1:c.14564_14565delinsTC	NP_001036188.1:p.Phe4855=
XM_006723317.1:c.14561_14562delinsTC	XP_006723380.1:p.Phe4854=
XM_006723319.1:c.14546_14547delinsTC	XP_006723382.1:p.Phe4849=
XM_011527204.1:c.14576_14577delinsTC	XP_011525506.1:p.Phe4859=
XM_011527205.1:c.14492_14493delinsTC	XP_011525507.1:p.Phe4831=
XM_006723317.2:c.14561_14562delinsTC	XP_006723380.1:p.Phe4854=
XM_006723319.2:c.14546_14547delinsTC	XP_006723382.1:p.Phe4849=
XM_011527205.2:c.14492_14493delinsTC	XP_011525507.1:p.Phe4831=
NM_000540.3:c.14579_14580delinsTC MANE Select	NP_000531.2:p.Phe4860=
NM_001042723.2:c.14564_14565delinsTC	NP_001036188.1:p.Phe4855=