Canonical Allele Identifier: CA024272
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133096
ClinVar RCV Id: RCV000119569 RCV001588942
dbSNP Id: rs193922898
MyVariant Identifiers: chr19:g.39076741T>A (hg19) chr19:g.38586101T>A (hg38)
ERepo: CA024272/MONDO:0007783/012
PubMed: PMID:16732084 PMID:16917943
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38586101T>A , CM000681.2:g.38586101T>A GRCh38
NC_000019.9:g.39076741T>A , CM000681.1:g.39076741T>A GRCh37
NC_000019.8:g.43768581T>A NCBI36
NG_008866.1:g.157402T>A , LRG_766:g.157402T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1815T>A
ENST00000688602.1:c.3212T>A
ENST00000689936.1:c.3184T>A
ENST00000692547.1:n.272T>A
ENST00000359596.8:c.14879T>A MANE Select ENSP00000352608.2:p.Phe4960Tyr
ENST00000355481.8:c.14864T>A ENSP00000347667.3:p.Phe4955Tyr
ENST00000359596.7:c.14879T>A ENSP00000352608.2:p.Phe4960Tyr
ENST00000360985.7:c.14861T>A ENSP00000354254.4:p.Phe4954Tyr
NM_000540.2:c.14879T>A , LRG_766t1:c.14879T>A NP_000531.2:p.Phe4960Tyr
NM_001042723.1:c.14864T>A NP_001036188.1:p.Phe4955Tyr
XM_006723317.1:c.14861T>A XP_006723380.1:p.Phe4954Tyr
XM_006723319.1:c.14846T>A XP_006723382.1:p.Phe4949Tyr
XM_011527204.1:c.14876T>A XP_011525506.1:p.Phe4959Tyr
XM_011527205.1:c.14792T>A XP_011525507.1:p.Phe4931Tyr
XM_006723317.2:c.14861T>A XP_006723380.1:p.Phe4954Tyr
XM_006723319.2:c.14846T>A XP_006723382.1:p.Phe4949Tyr
XM_011527205.2:c.14792T>A XP_011525507.1:p.Phe4931Tyr
NM_000540.3:c.14879T>A MANE Select NP_000531.2:p.Phe4960Tyr
NM_001042723.2:c.14864T>A NP_001036188.1:p.Phe4955Tyr
Search 100 bp 5'
Search 100 bp 3'