Canonical Allele Identifier: CA2335053467

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38500853_38500854delinsTC , CM000681.2:g.38500853_38500854delinsTC	GRCh38
NC_000019.9:g.38991493_38991494delinsTC , CM000681.1:g.38991493_38991494delinsTC	GRCh37
NC_000019.8:g.43683333_43683334delinsTC	NCBI36
NG_008866.1:g.72154_72155delinsTC , LRG_766:g.72154_72155delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7477_7478delinsTC	ENSP00000471601.2:p.Ser2493=
ENST00000359596.8:c.7477_7478delinsTC MANE Select	ENSP00000352608.2:p.Ser2493=
ENST00000355481.8:c.7477_7478delinsTC	ENSP00000347667.3:p.Ser2493=
ENST00000359596.7:c.7477_7478delinsTC	ENSP00000352608.2:p.Ser2493=
ENST00000360985.7:c.7474_7475delinsTC	ENSP00000354254.4:p.Ser2492=
ENST00000594335.5:c.929_930delinsTC
NM_000540.2:c.7477_7478delinsTC , LRG_766t1:c.7477_7478delinsTC	NP_000531.2:p.Ser2493=
NM_001042723.1:c.7477_7478delinsTC	NP_001036188.1:p.Ser2493=
XM_006723317.1:c.7477_7478delinsTC	XP_006723380.1:p.Ser2493=
XM_006723319.1:c.7477_7478delinsTC	XP_006723382.1:p.Ser2493=
XM_011527204.1:c.7474_7475delinsTC	XP_011525506.1:p.Ser2492=
XM_011527205.1:c.7477_7478delinsTC	XP_011525507.1:p.Ser2493=
XM_006723317.2:c.7477_7478delinsTC	XP_006723380.1:p.Ser2493=
XM_006723319.2:c.7477_7478delinsTC	XP_006723382.1:p.Ser2493=
XM_011527205.2:c.7477_7478delinsTC	XP_011525507.1:p.Ser2493=
XR_001753735.1:n.7560_7561delinsTC
NM_000540.3:c.7477_7478delinsTC MANE Select	NP_000531.2:p.Ser2493=
NM_001042723.2:c.7477_7478delinsTC	NP_001036188.1:p.Ser2493=