Canonical Allele Identifier: CA082719

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502884_38502885insGGGGC , CM000681.2:g.38502884_38502885insGGGGC	GRCh38
NC_000019.9:g.38993524_38993525insGGGGC , CM000681.1:g.38993524_38993525insGGGGC	GRCh37
NC_000019.8:g.43685364_43685365insGGGGC	NCBI36
NG_008866.1:g.74185_74186insGGGGC , LRG_766:g.74185_74186insGGGGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000599547.6:c.7840_7841insGGGGC	ENSP00000471601.2:p.Ile2614ArgfsTer?
ENST00000359596.8:c.7840_7841insGGGGC MANE Select	ENSP00000352608.2:p.Ile2614ArgfsTer?
ENST00000355481.8:c.7840_7841insGGGGC	ENSP00000347667.3:p.Ile2614ArgfsTer?
ENST00000359596.7:c.7840_7841insGGGGC	ENSP00000352608.2:p.Ile2614ArgfsTer?
ENST00000360985.7:c.7837_7838insGGGGC	ENSP00000354254.4:p.Ile2613ArgfsTer?
ENST00000594335.5:c.1292_1293insGGGGC
NM_000540.2:c.7840_7841insGGGGC , LRG_766t1:c.7840_7841insGGGGC	NP_000531.2:p.Ile2614ArgfsTer?
NM_001042723.1:c.7840_7841insGGGGC	NP_001036188.1:p.Ile2614ArgfsTer?
XM_006723317.1:c.7840_7841insGGGGC	XP_006723380.1:p.Ile2614ArgfsTer?
XM_006723319.1:c.7840_7841insGGGGC	XP_006723382.1:p.Ile2614ArgfsTer?
XM_011527204.1:c.7837_7838insGGGGC	XP_011525506.1:p.Ile2613ArgfsTer?
XM_011527205.1:c.7840_7841insGGGGC	XP_011525507.1:p.Ile2614ArgfsTer?
XM_006723317.2:c.7840_7841insGGGGC	XP_006723380.1:p.Ile2614ArgfsTer?
XM_006723319.2:c.7840_7841insGGGGC	XP_006723382.1:p.Ile2614ArgfsTer?
XM_011527205.2:c.7840_7841insGGGGC	XP_011525507.1:p.Ile2614ArgfsTer?
XR_001753735.1:n.7923_7924insGGGGC
NM_000540.3:c.7840_7841insGGGGC MANE Select	NP_000531.2:p.Ile2614ArgfsTer?
NM_001042723.2:c.7840_7841insGGGGC	NP_001036188.1:p.Ile2614ArgfsTer?