Canonical Allele Identifier: CA024084

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572185G>A , CM000681.2:g.38572185G>A	GRCh38
NC_000019.9:g.39062825G>A , CM000681.1:g.39062825G>A	GRCh37
NC_000019.8:g.43754665G>A	NCBI36
NG_008866.1:g.143486G>A , LRG_766:g.143486G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000540.3:c.13913G>A MANE Select	NP_000531.2:p.Gly4638Asp
ENST00000359596.8:c.13913G>A MANE Select	ENSP00000352608.2:p.Gly4638Asp
NM_000540.2:c.13913G>A , LRG_766t1:c.13913G>A	NP_000531.2:p.Gly4638Asp
NM_001042723.1:c.13898G>A	NP_001036188.1:p.Gly4633Asp
NM_001042723.2:c.13898G>A	NP_001036188.1:p.Gly4633Asp
ENST00000355481.8:c.13898G>A	ENSP00000347667.3:p.Gly4633Asp
ENST00000359596.7:c.13913G>A	ENSP00000352608.2:p.Gly4638Asp
ENST00000360985.7:c.13895G>A	ENSP00000354254.4:p.Gly4632Asp
ENST00000593677.1:c.373G>A
ENST00000593677.2:c.849G>A
ENST00000688602.1:c.2246G>A
ENST00000689936.1:c.2218G>A
XM_006723317.1:c.13895G>A	XP_006723380.1:p.Gly4632Asp
XM_006723317.2:c.13895G>A	XP_006723380.1:p.Gly4632Asp
XM_006723319.1:c.13880G>A	XP_006723382.1:p.Gly4627Asp
XM_006723319.2:c.13880G>A	XP_006723382.1:p.Gly4627Asp
XM_011527204.1:c.13910G>A	XP_011525506.1:p.Gly4637Asp
XM_011527205.1:c.13826G>A	XP_011525507.1:p.Gly4609Asp
XM_011527205.2:c.13826G>A	XP_011525507.1:p.Gly4609Asp