Canonical Allele Identifier: CA2335092500

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580468G= , CM000681.2:g.38580468G=	GRCh38
NC_000019.9:g.39071108G= , CM000681.1:g.39071108G=	GRCh37
NC_000019.8:g.43762948G=	NCBI36
NG_008866.1:g.151769G= , LRG_766:g.151769G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1546G=
ENST00000688602.1:c.2943G=
ENST00000689936.1:c.2915G=
ENST00000359596.8:c.14610G= MANE Select	ENSP00000352608.2:p.Glu4870=
ENST00000355481.8:c.14595G=	ENSP00000347667.3:p.Glu4865=
ENST00000359596.7:c.14610G=	ENSP00000352608.2:p.Glu4870=
ENST00000360985.7:c.14592G=	ENSP00000354254.4:p.Glu4864=
NM_000540.2:c.14610G= , LRG_766t1:c.14610G=	NP_000531.2:p.Glu4870=
NM_001042723.1:c.14595G=	NP_001036188.1:p.Glu4865=
XM_006723317.1:c.14592G=	XP_006723380.1:p.Glu4864=
XM_006723319.1:c.14577G=	XP_006723382.1:p.Glu4859=
XM_011527204.1:c.14607G=	XP_011525506.1:p.Glu4869=
XM_011527205.1:c.14523G=	XP_011525507.1:p.Glu4841=
XM_006723317.2:c.14592G=	XP_006723380.1:p.Glu4864=
XM_006723319.2:c.14577G=	XP_006723382.1:p.Glu4859=
XM_011527205.2:c.14523G=	XP_011525507.1:p.Glu4841=
NM_000540.3:c.14610G= MANE Select	NP_000531.2:p.Glu4870=
NM_001042723.2:c.14595G=	NP_001036188.1:p.Glu4865=