Canonical Allele Identifier: CA082159

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38496443_38496452del , CM000681.2:g.38496443_38496452del	GRCh38
NC_000019.9:g.38987083_38987092del , CM000681.1:g.38987083_38987092del	GRCh37
NC_000019.8:g.43678923_43678932del	NCBI36
NG_008866.1:g.67744_67753del , LRG_766:g.67744_67753del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.6698_6707del	ENSP00000471601.2:p.Cys2233SerfsTer19
ENST00000359596.8:c.6698_6707del MANE Select	ENSP00000352608.2:p.Cys2233SerfsTer19
ENST00000355481.8:c.6698_6707del	ENSP00000347667.3:p.Cys2233SerfsTer19
ENST00000359596.7:c.6698_6707del	ENSP00000352608.2:p.Cys2233SerfsTer19
ENST00000360985.7:c.6695_6704del	ENSP00000354254.4:p.Cys2232SerfsTer19
ENST00000594335.5:c.150_159del
NM_000540.2:c.6698_6707del , LRG_766t1:c.6698_6707del	NP_000531.2:p.Cys2233SerfsTer19
NM_001042723.1:c.6698_6707del	NP_001036188.1:p.Cys2233SerfsTer19
XM_006723317.1:c.6698_6707del	XP_006723380.1:p.Cys2233SerfsTer19
XM_006723319.1:c.6698_6707del	XP_006723382.1:p.Cys2233SerfsTer19
XM_011527204.1:c.6695_6704del	XP_011525506.1:p.Cys2232SerfsTer19
XM_011527205.1:c.6698_6707del	XP_011525507.1:p.Cys2233SerfsTer19
XM_006723317.2:c.6698_6707del	XP_006723380.1:p.Cys2233SerfsTer19
XM_006723319.2:c.6698_6707del	XP_006723382.1:p.Cys2233SerfsTer19
XM_011527205.2:c.6698_6707del	XP_011525507.1:p.Cys2233SerfsTer19
XR_001753735.1:n.6781_6790del
NM_000540.3:c.6698_6707del MANE Select	NP_000531.2:p.Cys2233SerfsTer19
NM_001042723.2:c.6698_6707del	NP_001036188.1:p.Cys2233SerfsTer19