Canonical Allele Identifier: CA2335088422

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572166T= , CM000681.2:g.38572166T=	GRCh38
NC_000019.9:g.39062806T= , CM000681.1:g.39062806T=	GRCh37
NC_000019.8:g.43754646T=	NCBI36
NG_008866.1:g.143467T= , LRG_766:g.143467T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.830T=
ENST00000688602.1:c.2227T=
ENST00000689936.1:c.2199T=
ENST00000359596.8:c.13894T= MANE Select	ENSP00000352608.2:p.Phe4632=
ENST00000355481.8:c.13879T=	ENSP00000347667.3:p.Phe4627=
ENST00000359596.7:c.13894T=	ENSP00000352608.2:p.Phe4632=
ENST00000360985.7:c.13876T=	ENSP00000354254.4:p.Phe4626=
ENST00000593677.1:c.354T=
NM_000540.2:c.13894T= , LRG_766t1:c.13894T=	NP_000531.2:p.Phe4632=
NM_001042723.1:c.13879T=	NP_001036188.1:p.Phe4627=
XM_006723317.1:c.13876T=	XP_006723380.1:p.Phe4626=
XM_006723319.1:c.13861T=	XP_006723382.1:p.Phe4621=
XM_011527204.1:c.13891T=	XP_011525506.1:p.Phe4631=
XM_011527205.1:c.13807T=	XP_011525507.1:p.Phe4603=
XM_006723317.2:c.13876T=	XP_006723380.1:p.Phe4626=
XM_006723319.2:c.13861T=	XP_006723382.1:p.Phe4621=
XM_011527205.2:c.13807T=	XP_011525507.1:p.Phe4603=
NM_000540.3:c.13894T= MANE Select	NP_000531.2:p.Phe4632=
NM_001042723.2:c.13879T=	NP_001036188.1:p.Phe4627=