Canonical Allele Identifier: CA405671021
Gene: RYR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38565062A>T , CM000681.2:g.38565062A>T GRCh38
NC_000019.9:g.39055702A>T , CM000681.1:g.39055702A>T GRCh37
NC_000019.8:g.43747542A>T NCBI36
NG_008866.1:g.136363A>T , LRG_766:g.136363A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000688602.1:c.1138A>T
ENST00000689936.1:c.1120A>T
ENST00000359596.8:c.12728A>T MANE Select ENSP00000352608.2:p.Glu4243Val
ENST00000355481.8:c.12713A>T ENSP00000347667.3:p.Glu4238Val
ENST00000359596.7:c.12728A>T ENSP00000352608.2:p.Glu4243Val
ENST00000360985.7:c.12710A>T ENSP00000354254.4:p.Glu4237Val
ENST00000594335.5:c.6097A>T
NM_000540.2:c.12728A>T , LRG_766t1:c.12728A>T NP_000531.2:p.Glu4243Val
NM_001042723.1:c.12713A>T NP_001036188.1:p.Glu4238Val
XM_006723317.1:c.12710A>T XP_006723380.1:p.Glu4237Val
XM_006723319.1:c.12695A>T XP_006723382.1:p.Glu4232Val
XM_011527204.1:c.12725A>T XP_011525506.1:p.Glu4242Val
XM_011527205.1:c.12728A>T XP_011525507.1:p.Glu4243Val
XM_006723317.2:c.12710A>T XP_006723380.1:p.Glu4237Val
XM_006723319.2:c.12695A>T XP_006723382.1:p.Glu4232Val
XM_011527205.2:c.12728A>T XP_011525507.1:p.Glu4243Val
NM_000540.3:c.12728A>T MANE Select NP_000531.2:p.Glu4243Val
NM_001042723.2:c.12713A>T NP_001036188.1:p.Glu4238Val