Canonical Allele Identifier: CA2335095585

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38586167A= , CM000681.2:g.38586167A=	GRCh38
NC_000019.9:g.39076807A= , CM000681.1:g.39076807A=	GRCh37
NC_000019.8:g.43768647A=	NCBI36
NG_008866.1:g.157468A= , LRG_766:g.157468A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1881A=
ENST00000688602.1:c.3278A=
ENST00000689936.1:c.3250A=
ENST00000692547.1:n.338A=
ENST00000359596.8:c.14945A= MANE Select	ENSP00000352608.2:p.Glu4982=
ENST00000355481.8:c.14930A=	ENSP00000347667.3:p.Glu4977=
ENST00000359596.7:c.14945A=	ENSP00000352608.2:p.Glu4982=
ENST00000360985.7:c.14927A=	ENSP00000354254.4:p.Glu4976=
NM_000540.2:c.14945A= , LRG_766t1:c.14945A=	NP_000531.2:p.Glu4982=
NM_001042723.1:c.14930A=	NP_001036188.1:p.Glu4977=
XM_006723317.1:c.14927A=	XP_006723380.1:p.Glu4976=
XM_006723319.1:c.14912A=	XP_006723382.1:p.Glu4971=
XM_011527204.1:c.14942A=	XP_011525506.1:p.Glu4981=
XM_011527205.1:c.14858A=	XP_011525507.1:p.Glu4953=
XM_006723317.2:c.14927A=	XP_006723380.1:p.Glu4976=
XM_006723319.2:c.14912A=	XP_006723382.1:p.Glu4971=
XM_011527205.2:c.14858A=	XP_011525507.1:p.Glu4953=
NM_000540.3:c.14945A= MANE Select	NP_000531.2:p.Glu4982=
NM_001042723.2:c.14930A=	NP_001036188.1:p.Glu4977=