Canonical Allele Identifier: CA2335094984

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38585054A= , CM000681.2:g.38585054A=	GRCh38
NC_000019.9:g.39075694A= , CM000681.1:g.39075694A=	GRCh37
NC_000019.8:g.43767534A=	NCBI36
NG_008866.1:g.156355A= , LRG_766:g.156355A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1694A=
ENST00000688602.1:c.3091A=
ENST00000689936.1:c.3063A=
ENST00000692547.1:n.151A=
ENST00000359596.8:c.14758A= MANE Select	ENSP00000352608.2:p.Thr4920=
ENST00000355481.8:c.14743A=	ENSP00000347667.3:p.Thr4915=
ENST00000359596.7:c.14758A=	ENSP00000352608.2:p.Thr4920=
ENST00000360985.7:c.14740A=	ENSP00000354254.4:p.Thr4914=
NM_000540.2:c.14758A= , LRG_766t1:c.14758A=	NP_000531.2:p.Thr4920=
NM_001042723.1:c.14743A=	NP_001036188.1:p.Thr4915=
XM_006723317.1:c.14740A=	XP_006723380.1:p.Thr4914=
XM_006723319.1:c.14725A=	XP_006723382.1:p.Thr4909=
XM_011527204.1:c.14755A=	XP_011525506.1:p.Thr4919=
XM_011527205.1:c.14671A=	XP_011525507.1:p.Thr4891=
XM_006723317.2:c.14740A=	XP_006723380.1:p.Thr4914=
XM_006723319.2:c.14725A=	XP_006723382.1:p.Thr4909=
XM_011527205.2:c.14671A=	XP_011525507.1:p.Thr4891=
NM_000540.3:c.14758A= MANE Select	NP_000531.2:p.Thr4920=
NM_001042723.2:c.14743A=	NP_001036188.1:p.Thr4915=