Canonical Allele Identifier: CA081142
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1039754
ClinVar RCV Id: RCV001343295 RCV004005185
dbSNP Id: rs758668017
ExAC: 19:39068624 G / A
gnomAD v2: 19-39068624-G-A
gnomAD v4: 19-38577984-G-A
MyVariant Identifiers: chr19:g.39068624G>A (hg19) chr19:g.38577984G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38577984G>A , CM000681.2:g.38577984G>A GRCh38
NC_000019.9:g.39068624G>A , CM000681.1:g.39068624G>A GRCh37
NC_000019.8:g.43760464G>A NCBI36
NG_008866.1:g.149285G>A , LRG_766:g.149285G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1175G>A
ENST00000688602.1:c.2572G>A
ENST00000689936.1:c.2544G>A
ENST00000359596.8:c.14239G>A MANE Select ENSP00000352608.2:p.Ala4747Thr
ENST00000355481.8:c.14224G>A ENSP00000347667.3:p.Ala4742Thr
ENST00000359596.7:c.14239G>A ENSP00000352608.2:p.Ala4747Thr
ENST00000360985.7:c.14221G>A ENSP00000354254.4:p.Ala4741Thr
NM_000540.2:c.14239G>A , LRG_766t1:c.14239G>A NP_000531.2:p.Ala4747Thr
NM_001042723.1:c.14224G>A NP_001036188.1:p.Ala4742Thr
XM_006723317.1:c.14221G>A XP_006723380.1:p.Ala4741Thr
XM_006723319.1:c.14206G>A XP_006723382.1:p.Ala4736Thr
XM_011527204.1:c.14236G>A XP_011525506.1:p.Ala4746Thr
XM_011527205.1:c.14152G>A XP_011525507.1:p.Ala4718Thr
XM_006723317.2:c.14221G>A XP_006723380.1:p.Ala4741Thr
XM_006723319.2:c.14206G>A XP_006723382.1:p.Ala4736Thr
XM_011527205.2:c.14152G>A XP_011525507.1:p.Ala4718Thr
NM_000540.3:c.14239G>A MANE Select NP_000531.2:p.Ala4747Thr
NM_001042723.2:c.14224G>A NP_001036188.1:p.Ala4742Thr
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