Canonical Allele Identifier: CA2335084595

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565010G= , CM000681.2:g.38565010G=	GRCh38
NC_000019.9:g.39055650G= , CM000681.1:g.39055650G=	GRCh37
NC_000019.8:g.43747490G=	NCBI36
NG_008866.1:g.136311G= , LRG_766:g.136311G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1086G=
ENST00000689936.1:c.1068G=
ENST00000359596.8:c.12676G= MANE Select	ENSP00000352608.2:p.Glu4226=
ENST00000355481.8:c.12661G=	ENSP00000347667.3:p.Glu4221=
ENST00000359596.7:c.12676G=	ENSP00000352608.2:p.Glu4226=
ENST00000360985.7:c.12658G=	ENSP00000354254.4:p.Glu4220=
ENST00000594335.5:c.6045G=
NM_000540.2:c.12676G= , LRG_766t1:c.12676G=	NP_000531.2:p.Glu4226=
NM_001042723.1:c.12661G=	NP_001036188.1:p.Glu4221=
XM_006723317.1:c.12658G=	XP_006723380.1:p.Glu4220=
XM_006723319.1:c.12643G=	XP_006723382.1:p.Glu4215=
XM_011527204.1:c.12673G=	XP_011525506.1:p.Glu4225=
XM_011527205.1:c.12676G=	XP_011525507.1:p.Glu4226=
XM_006723317.2:c.12658G=	XP_006723380.1:p.Glu4220=
XM_006723319.2:c.12643G=	XP_006723382.1:p.Glu4215=
XM_011527205.2:c.12676G=	XP_011525507.1:p.Glu4226=
NM_000540.3:c.12676G= MANE Select	NP_000531.2:p.Glu4226=
NM_001042723.2:c.12661G=	NP_001036188.1:p.Glu4221=