Canonical Allele Identifier: CA2335084681

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565153A= , CM000681.2:g.38565153A=	GRCh38
NC_000019.9:g.39055793A= , CM000681.1:g.39055793A=	GRCh37
NC_000019.8:g.43747633A=	NCBI36
NG_008866.1:g.136454A= , LRG_766:g.136454A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1229A=
ENST00000689936.1:c.1211A=
ENST00000359596.8:c.12819A= MANE Select	ENSP00000352608.2:p.Glu4273=
ENST00000355481.8:c.12804A=	ENSP00000347667.3:p.Glu4268=
ENST00000359596.7:c.12819A=	ENSP00000352608.2:p.Glu4273=
ENST00000360985.7:c.12801A=	ENSP00000354254.4:p.Glu4267=
ENST00000594335.5:c.6188A=
NM_000540.2:c.12819A= , LRG_766t1:c.12819A=	NP_000531.2:p.Glu4273=
NM_001042723.1:c.12804A=	NP_001036188.1:p.Glu4268=
XM_006723317.1:c.12801A=	XP_006723380.1:p.Glu4267=
XM_006723319.1:c.12786A=	XP_006723382.1:p.Glu4262=
XM_011527204.1:c.12816A=	XP_011525506.1:p.Glu4272=
XM_011527205.1:c.12819A=	XP_011525507.1:p.Glu4273=
XM_006723317.2:c.12801A=	XP_006723380.1:p.Glu4267=
XM_006723319.2:c.12786A=	XP_006723382.1:p.Glu4262=
XM_011527205.2:c.12819A=	XP_011525507.1:p.Glu4273=
NM_000540.3:c.12819A= MANE Select	NP_000531.2:p.Glu4273=
NM_001042723.2:c.12804A=	NP_001036188.1:p.Glu4268=