Canonical Allele Identifier: CA2814348052

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572306_38572307insAC , CM000681.2:g.38572306_38572307insAC	GRCh38
NC_000019.9:g.39062946_39062947insAC , CM000681.1:g.39062946_39062947insAC	GRCh37
NC_000019.8:g.43754786_43754787insAC	NCBI36
NG_008866.1:g.143607_143608insAC , LRG_766:g.143607_143608insAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.934+36_934+37insAC
ENST00000688602.1:c.2331+36_2331+37insAC
ENST00000689936.1:c.2303+36_2303+37insAC
ENST00000359596.8:c.13998+36_13998+37insAC MANE Select	ENSP00000352608.2:n.13998+36_13998+37insAC
ENST00000355481.8:c.13983+36_13983+37insAC	ENSP00000347667.3:n.13983+36_13983+37insAC
ENST00000359596.7:c.13998+36_13998+37insAC	ENSP00000352608.2:n.13998+36_13998+37insAC
ENST00000360985.7:c.13980+36_13980+37insAC	ENSP00000354254.4:n.13980+36_13980+37insAC
NM_000540.2:c.13998+36_13998+37insAC , LRG_766t1:c.13998+36_13998+37insAC	NP_000531.2:n.13998+36_13998+37insAC
NM_001042723.1:c.13983+36_13983+37insAC	NP_001036188.1:n.13983+36_13983+37insAC
XM_006723317.1:c.13980+36_13980+37insAC	XP_006723380.1:n.13980+36_13980+37insAC
XM_006723319.1:c.13965+36_13965+37insAC	XP_006723382.1:n.13965+36_13965+37insAC
XM_011527204.1:c.13995+36_13995+37insAC	XP_011525506.1:n.13995+36_13995+37insAC
XM_011527205.1:c.13911+36_13911+37insAC	XP_011525507.1:n.13911+36_13911+37insAC
XM_006723317.2:c.13980+36_13980+37insAC	XP_006723380.1:n.13980+36_13980+37insAC
XM_006723319.2:c.13965+36_13965+37insAC	XP_006723382.1:n.13965+36_13965+37insAC
XM_011527205.2:c.13911+36_13911+37insAC	XP_011525507.1:n.13911+36_13911+37insAC
NM_000540.3:c.13998+36_13998+37insAC MANE Select	NP_000531.2:n.13998+36_13998+37insAC
NM_001042723.2:c.13983+36_13983+37insAC	NP_001036188.1:n.13983+36_13983+37insAC