Canonical Allele Identifier: CA2335084863

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565401G= , CM000681.2:g.38565401G=	GRCh38
NC_000019.9:g.39056041G= , CM000681.1:g.39056041G=	GRCh37
NC_000019.8:g.43747881G=	NCBI36
NG_008866.1:g.136702G= , LRG_766:g.136702G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.3G=
ENST00000688602.1:c.1477G=
ENST00000689936.1:c.1459G=
ENST00000359596.8:c.13067G= MANE Select	ENSP00000352608.2:p.Gly4356=
ENST00000355481.8:c.13052G=	ENSP00000347667.3:p.Gly4351=
ENST00000359596.7:c.13067G=	ENSP00000352608.2:p.Gly4356=
ENST00000360985.7:c.13049G=	ENSP00000354254.4:p.Gly4350=
NM_000540.2:c.13067G= , LRG_766t1:c.13067G=	NP_000531.2:p.Gly4356=
NM_001042723.1:c.13052G=	NP_001036188.1:p.Gly4351=
XM_006723317.1:c.13049G=	XP_006723380.1:p.Gly4350=
XM_006723319.1:c.13034G=	XP_006723382.1:p.Gly4345=
XM_011527204.1:c.13064G=	XP_011525506.1:p.Gly4355=
XM_011527205.1:c.13067G=	XP_011525507.1:p.Gly4356=
XM_006723317.2:c.13049G=	XP_006723380.1:p.Gly4350=
XM_006723319.2:c.13034G=	XP_006723382.1:p.Gly4345=
XM_011527205.2:c.13067G=	XP_011525507.1:p.Gly4356=
NM_000540.3:c.13067G= MANE Select	NP_000531.2:p.Gly4356=
NM_001042723.2:c.13052G=	NP_001036188.1:p.Gly4351=