Canonical Allele Identifier: CA2335088986

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38573221G= , CM000681.2:g.38573221G=	GRCh38
NC_000019.9:g.39063861G= , CM000681.1:g.39063861G=	GRCh37
NC_000019.8:g.43755701G=	NCBI36
NG_008866.1:g.144522G= , LRG_766:g.144522G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.979G=
ENST00000688602.1:c.2376G=
ENST00000689936.1:c.2348G=
ENST00000359596.8:c.14043G= MANE Select	ENSP00000352608.2:p.Lys4681=
ENST00000355481.8:c.14028G=	ENSP00000347667.3:p.Lys4676=
ENST00000359596.7:c.14043G=	ENSP00000352608.2:p.Lys4681=
ENST00000360985.7:c.14025G=	ENSP00000354254.4:p.Lys4675=
NM_000540.2:c.14043G= , LRG_766t1:c.14043G=	NP_000531.2:p.Lys4681=
NM_001042723.1:c.14028G=	NP_001036188.1:p.Lys4676=
XM_006723317.1:c.14025G=	XP_006723380.1:p.Lys4675=
XM_006723319.1:c.14010G=	XP_006723382.1:p.Lys4670=
XM_011527204.1:c.14040G=	XP_011525506.1:p.Lys4680=
XM_011527205.1:c.13956G=	XP_011525507.1:p.Lys4652=
XM_006723317.2:c.14025G=	XP_006723380.1:p.Lys4675=
XM_006723319.2:c.14010G=	XP_006723382.1:p.Lys4670=
XM_011527205.2:c.13956G=	XP_011525507.1:p.Lys4652=
NM_000540.3:c.14043G= MANE Select	NP_000531.2:p.Lys4681=
NM_001042723.2:c.14028G=	NP_001036188.1:p.Lys4676=