Canonical Allele Identifier: CA2335092358

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580219A= , CM000681.2:g.38580219A=	GRCh38
NC_000019.9:g.39070859A= , CM000681.1:g.39070859A=	GRCh37
NC_000019.8:g.43762699A=	NCBI36
NG_008866.1:g.151520A= , LRG_766:g.151520A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1447+91A=
ENST00000688602.1:c.2844+91A=
ENST00000689936.1:c.2816+91A=
ENST00000359596.8:c.14511+91A= MANE Select	ENSP00000352608.2:n.14511+91A=
ENST00000355481.8:c.14496+91A=	ENSP00000347667.3:n.14496+91A=
ENST00000359596.7:c.14511+91A=	ENSP00000352608.2:n.14511+91A=
ENST00000360985.7:c.14493+91A=	ENSP00000354254.4:n.14493+91A=
NM_000540.2:c.14511+91A= , LRG_766t1:c.14511+91A=	NP_000531.2:n.14511+91A=
NM_001042723.1:c.14496+91A=	NP_001036188.1:n.14496+91A=
XM_006723317.1:c.14493+91A=	XP_006723380.1:n.14493+91A=
XM_006723319.1:c.14478+91A=	XP_006723382.1:n.14478+91A=
XM_011527204.1:c.14508+91A=	XP_011525506.1:n.14508+91A=
XM_011527205.1:c.14424+91A=	XP_011525507.1:n.14424+91A=
XM_006723317.2:c.14493+91A=	XP_006723380.1:n.14493+91A=
XM_006723319.2:c.14478+91A=	XP_006723382.1:n.14478+91A=
XM_011527205.2:c.14424+91A=	XP_011525507.1:n.14424+91A=
NM_000540.3:c.14511+91A= MANE Select	NP_000531.2:n.14511+91A=
NM_001042723.2:c.14496+91A=	NP_001036188.1:n.14496+91A=