Canonical Allele Identifier: CA2335088454

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572228A= , CM000681.2:g.38572228A=	GRCh38
NC_000019.9:g.39062868A= , CM000681.1:g.39062868A=	GRCh37
NC_000019.8:g.43754708A=	NCBI36
NG_008866.1:g.143529A= , LRG_766:g.143529A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.892A=
ENST00000688602.1:c.2289A=
ENST00000689936.1:c.2261A=
ENST00000359596.8:c.13956A= MANE Select	ENSP00000352608.2:p.Thr4652=
ENST00000355481.8:c.13941A=	ENSP00000347667.3:p.Thr4647=
ENST00000359596.7:c.13956A=	ENSP00000352608.2:p.Thr4652=
ENST00000360985.7:c.13938A=	ENSP00000354254.4:p.Thr4646=
ENST00000593677.1:c.416A=
NM_000540.2:c.13956A= , LRG_766t1:c.13956A=	NP_000531.2:p.Thr4652=
NM_001042723.1:c.13941A=	NP_001036188.1:p.Thr4647=
XM_006723317.1:c.13938A=	XP_006723380.1:p.Thr4646=
XM_006723319.1:c.13923A=	XP_006723382.1:p.Thr4641=
XM_011527204.1:c.13953A=	XP_011525506.1:p.Thr4651=
XM_011527205.1:c.13869A=	XP_011525507.1:p.Thr4623=
XM_006723317.2:c.13938A=	XP_006723380.1:p.Thr4646=
XM_006723319.2:c.13923A=	XP_006723382.1:p.Thr4641=
XM_011527205.2:c.13869A=	XP_011525507.1:p.Thr4623=
NM_000540.3:c.13956A= MANE Select	NP_000531.2:p.Thr4652=
NM_001042723.2:c.13941A=	NP_001036188.1:p.Thr4647=