Canonical Allele Identifier: CA2335092260

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580010T= , CM000681.2:g.38580010T=	GRCh38
NC_000019.9:g.39070650T= , CM000681.1:g.39070650T=	GRCh37
NC_000019.8:g.43762490T=	NCBI36
NG_008866.1:g.151311T= , LRG_766:g.151311T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1329T=
ENST00000688602.1:c.2726T=
ENST00000689936.1:c.2698T=
ENST00000359596.8:c.14393T= MANE Select	ENSP00000352608.2:p.Val4798=
ENST00000355481.8:c.14378T=	ENSP00000347667.3:p.Val4793=
ENST00000359596.7:c.14393T=	ENSP00000352608.2:p.Val4798=
ENST00000360985.7:c.14375T=	ENSP00000354254.4:p.Val4792=
NM_000540.2:c.14393T= , LRG_766t1:c.14393T=	NP_000531.2:p.Val4798=
NM_001042723.1:c.14378T=	NP_001036188.1:p.Val4793=
XM_006723317.1:c.14375T=	XP_006723380.1:p.Val4792=
XM_006723319.1:c.14360T=	XP_006723382.1:p.Val4787=
XM_011527204.1:c.14390T=	XP_011525506.1:p.Val4797=
XM_011527205.1:c.14306T=	XP_011525507.1:p.Val4769=
XM_006723317.2:c.14375T=	XP_006723380.1:p.Val4792=
XM_006723319.2:c.14360T=	XP_006723382.1:p.Val4787=
XM_011527205.2:c.14306T=	XP_011525507.1:p.Val4769=
NM_000540.3:c.14393T= MANE Select	NP_000531.2:p.Val4798=
NM_001042723.2:c.14378T=	NP_001036188.1:p.Val4793=