Canonical Allele Identifier: CA024049

Gene: RYR1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38566953G>T , CM000681.2:g.38566953G>T	GRCh38
NC_000019.9:g.39057593G>T , CM000681.1:g.39057593G>T	GRCh37
NC_000019.8:g.43749433G>T	NCBI36
NG_008866.1:g.138254G>T , LRG_766:g.138254G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.416G>T
ENST00000688602.1:c.1848-820G>T
ENST00000689936.1:c.1872G>T
ENST00000359596.8:c.13480G>T MANE Select	ENSP00000352608.2:p.Glu4494Ter
ENST00000355481.8:c.13465G>T	ENSP00000347667.3:p.Glu4489Ter
ENST00000359596.7:c.13480G>T	ENSP00000352608.2:p.Glu4494Ter
ENST00000360985.7:c.13462G>T	ENSP00000354254.4:p.Glu4488Ter
ENST00000593677.1:c.27G>T
NM_000540.2:c.13480G>T , LRG_766t1:c.13480G>T	NP_000531.2:p.Glu4494Ter
NM_001042723.1:c.13465G>T	NP_001036188.1:p.Glu4489Ter
XM_006723317.1:c.13462G>T	XP_006723380.1:p.Glu4488Ter
XM_006723319.1:c.13447G>T	XP_006723382.1:p.Glu4483Ter
XM_011527204.1:c.13477G>T	XP_011525506.1:p.Glu4493Ter
XM_011527205.1:c.13480G>T	XP_011525507.1:p.Glu4494Ter
XM_006723317.2:c.13462G>T	XP_006723380.1:p.Glu4488Ter
XM_006723319.2:c.13447G>T	XP_006723382.1:p.Glu4483Ter
XM_011527205.2:c.13480G>T	XP_011525507.1:p.Glu4494Ter
NM_000540.3:c.13480G>T MANE Select	NP_000531.2:p.Glu4494Ter
NM_001042723.2:c.13465G>T	NP_001036188.1:p.Glu4489Ter