Canonical Allele Identifier: CA405678249
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 427029
ClinVar RCV Id: RCV000489580
dbSNP Id: rs1085307909

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38567912T>A , CM000681.2:g.38567912T>A GRCh38
NC_000019.9:g.39058552T>A , CM000681.1:g.39058552T>A GRCh37
NC_000019.8:g.43750392T>A NCBI36
NG_008866.1:g.139213T>A , LRG_766:g.139213T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000593677.2:c.590T>A
ENST00000688602.1:c.1987T>A
ENST00000689936.1:c.2046T>A
ENST00000359596.8:c.13654T>A MANE Select ENSP00000352608.2:p.Phe4552Ile
ENST00000355481.8:c.13639T>A ENSP00000347667.3:p.Phe4547Ile
ENST00000359596.7:c.13654T>A ENSP00000352608.2:p.Phe4552Ile
ENST00000360985.7:c.13636T>A ENSP00000354254.4:p.Phe4546Ile
ENST00000593677.1:c.201T>A
NM_000540.2:c.13654T>A , LRG_766t1:c.13654T>A NP_000531.2:p.Phe4552Ile
NM_001042723.1:c.13639T>A NP_001036188.1:p.Phe4547Ile
XM_006723317.1:c.13636T>A XP_006723380.1:p.Phe4546Ile
XM_006723319.1:c.13621T>A XP_006723382.1:p.Phe4541Ile
XM_011527204.1:c.13651T>A XP_011525506.1:p.Phe4551Ile
XM_011527205.1:c.13654T>A XP_011525507.1:p.Phe4552Ile
XM_006723317.2:c.13636T>A XP_006723380.1:p.Phe4546Ile
XM_006723319.2:c.13621T>A XP_006723382.1:p.Phe4541Ile
XM_011527205.2:c.13654T>A XP_011525507.1:p.Phe4552Ile
NM_000540.3:c.13654T>A MANE Select NP_000531.2:p.Phe4552Ile
NM_001042723.2:c.13639T>A NP_001036188.1:p.Phe4547Ile