Canonical Allele Identifier: CA2335051249

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38496456C= , CM000681.2:g.38496456C=	GRCh38
NC_000019.9:g.38987096C= , CM000681.1:g.38987096C=	GRCh37
NC_000019.8:g.43678936C=	NCBI36
NG_008866.1:g.67757C= , LRG_766:g.67757C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.6711C=	ENSP00000471601.2:p.Cys2237=
ENST00000359596.8:c.6711C= MANE Select	ENSP00000352608.2:p.Cys2237=
ENST00000355481.8:c.6711C=	ENSP00000347667.3:p.Cys2237=
ENST00000359596.7:c.6711C=	ENSP00000352608.2:p.Cys2237=
ENST00000360985.7:c.6708C=	ENSP00000354254.4:p.Cys2236=
ENST00000594335.5:c.163C=
NM_000540.2:c.6711C= , LRG_766t1:c.6711C=	NP_000531.2:p.Cys2237=
NM_001042723.1:c.6711C=	NP_001036188.1:p.Cys2237=
XM_006723317.1:c.6711C=	XP_006723380.1:p.Cys2237=
XM_006723319.1:c.6711C=	XP_006723382.1:p.Cys2237=
XM_011527204.1:c.6708C=	XP_011525506.1:p.Cys2236=
XM_011527205.1:c.6711C=	XP_011525507.1:p.Cys2237=
XM_006723317.2:c.6711C=	XP_006723380.1:p.Cys2237=
XM_006723319.2:c.6711C=	XP_006723382.1:p.Cys2237=
XM_011527205.2:c.6711C=	XP_011525507.1:p.Cys2237=
XR_001753735.1:n.6794C=
NM_000540.3:c.6711C= MANE Select	NP_000531.2:p.Cys2237=
NM_001042723.2:c.6711C=	NP_001036188.1:p.Cys2237=