Canonical Allele Identifier: CA2335084830

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565358C= , CM000681.2:g.38565358C=	GRCh38
NC_000019.9:g.39055998C= , CM000681.1:g.39055998C=	GRCh37
NC_000019.8:g.43747838C=	NCBI36
NG_008866.1:g.136659C= , LRG_766:g.136659C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1434C=
ENST00000689936.1:c.1416C=
ENST00000359596.8:c.13024C= MANE Select	ENSP00000352608.2:p.Arg4342=
ENST00000355481.8:c.13009C=	ENSP00000347667.3:p.Arg4337=
ENST00000359596.7:c.13024C=	ENSP00000352608.2:p.Arg4342=
ENST00000360985.7:c.13006C=	ENSP00000354254.4:p.Arg4336=
NM_000540.2:c.13024C= , LRG_766t1:c.13024C=	NP_000531.2:p.Arg4342=
NM_001042723.1:c.13009C=	NP_001036188.1:p.Arg4337=
XM_006723317.1:c.13006C=	XP_006723380.1:p.Arg4336=
XM_006723319.1:c.12991C=	XP_006723382.1:p.Arg4331=
XM_011527204.1:c.13021C=	XP_011525506.1:p.Arg4341=
XM_011527205.1:c.13024C=	XP_011525507.1:p.Arg4342=
XM_006723317.2:c.13006C=	XP_006723380.1:p.Arg4336=
XM_006723319.2:c.12991C=	XP_006723382.1:p.Arg4331=
XM_011527205.2:c.13024C=	XP_011525507.1:p.Arg4342=
NM_000540.3:c.13024C= MANE Select	NP_000531.2:p.Arg4342=
NM_001042723.2:c.13009C=	NP_001036188.1:p.Arg4337=