Canonical Allele Identifier: CA2335092442

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580373G= , CM000681.2:g.38580373G=	GRCh38
NC_000019.9:g.39071013G= , CM000681.1:g.39071013G=	GRCh37
NC_000019.8:g.43762853G=	NCBI36
NG_008866.1:g.151674G= , LRG_766:g.151674G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1451G=
ENST00000688602.1:c.2848G=
ENST00000689936.1:c.2820G=
ENST00000359596.8:c.14515G= MANE Select	ENSP00000352608.2:p.Val4839=
ENST00000355481.8:c.14500G=	ENSP00000347667.3:p.Val4834=
ENST00000359596.7:c.14515G=	ENSP00000352608.2:p.Val4839=
ENST00000360985.7:c.14497G=	ENSP00000354254.4:p.Val4833=
NM_000540.2:c.14515G= , LRG_766t1:c.14515G=	NP_000531.2:p.Val4839=
NM_001042723.1:c.14500G=	NP_001036188.1:p.Val4834=
XM_006723317.1:c.14497G=	XP_006723380.1:p.Val4833=
XM_006723319.1:c.14482G=	XP_006723382.1:p.Val4828=
XM_011527204.1:c.14512G=	XP_011525506.1:p.Val4838=
XM_011527205.1:c.14428G=	XP_011525507.1:p.Val4810=
XM_006723317.2:c.14497G=	XP_006723380.1:p.Val4833=
XM_006723319.2:c.14482G=	XP_006723382.1:p.Val4828=
XM_011527205.2:c.14428G=	XP_011525507.1:p.Val4810=
NM_000540.3:c.14515G= MANE Select	NP_000531.2:p.Val4839=
NM_001042723.2:c.14500G=	NP_001036188.1:p.Val4834=