Canonical Allele Identifier: CA2335095590

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38586183C= , CM000681.2:g.38586183C=	GRCh38
NC_000019.9:g.39076823C= , CM000681.1:g.39076823C=	GRCh37
NC_000019.8:g.43768663C=	NCBI36
NG_008866.1:g.157484C= , LRG_766:g.157484C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1897C=
ENST00000688602.1:c.3294C=
ENST00000689936.1:c.3266C=
ENST00000692547.1:n.354C=
ENST00000359596.8:c.14961C= MANE Select	ENSP00000352608.2:p.Ala4987=
ENST00000355481.8:c.14946C=	ENSP00000347667.3:p.Ala4982=
ENST00000359596.7:c.14961C=	ENSP00000352608.2:p.Ala4987=
ENST00000360985.7:c.14943C=	ENSP00000354254.4:p.Ala4981=
NM_000540.2:c.14961C= , LRG_766t1:c.14961C=	NP_000531.2:p.Ala4987=
NM_001042723.1:c.14946C=	NP_001036188.1:p.Ala4982=
XM_006723317.1:c.14943C=	XP_006723380.1:p.Ala4981=
XM_006723319.1:c.14928C=	XP_006723382.1:p.Ala4976=
XM_011527204.1:c.14958C=	XP_011525506.1:p.Ala4986=
XM_011527205.1:c.14874C=	XP_011525507.1:p.Ala4958=
XM_006723317.2:c.14943C=	XP_006723380.1:p.Ala4981=
XM_006723319.2:c.14928C=	XP_006723382.1:p.Ala4976=
XM_011527205.2:c.14874C=	XP_011525507.1:p.Ala4958=
NM_000540.3:c.14961C= MANE Select	NP_000531.2:p.Ala4987=
NM_001042723.2:c.14946C=	NP_001036188.1:p.Ala4982=