Canonical Allele Identifier: CA308120098
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2883132
ClinVar RCV Id: RCV003757990
dbSNP Id: rs751568439
gnomAD v2: 19-39068584-C-T
gnomAD v3: 19-38577944-C-T
gnomAD v4: 19-38577944-C-T
COSMIC: COSM4077817
MyVariant Identifiers: chr19:g.39068584C>T (hg19) chr19:g.38577944C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38577944C>T , CM000681.2:g.38577944C>T GRCh38
NC_000019.9:g.39068584C>T , CM000681.1:g.39068584C>T GRCh37
NC_000019.8:g.43760424C>T NCBI36
NG_008866.1:g.149245C>T , LRG_766:g.149245C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1135C>T
ENST00000688602.1:c.2532C>T
ENST00000689936.1:c.2504C>T
ENST00000359596.8:c.14199C>T MANE Select ENSP00000352608.2:p.Tyr4733=
ENST00000355481.8:c.14184C>T ENSP00000347667.3:p.Tyr4728=
ENST00000359596.7:c.14199C>T ENSP00000352608.2:p.Tyr4733=
ENST00000360985.7:c.14181C>T ENSP00000354254.4:p.Tyr4727=
NM_000540.2:c.14199C>T , LRG_766t1:c.14199C>T NP_000531.2:p.Tyr4733=
NM_001042723.1:c.14184C>T NP_001036188.1:p.Tyr4728=
XM_006723317.1:c.14181C>T XP_006723380.1:p.Tyr4727=
XM_006723319.1:c.14166C>T XP_006723382.1:p.Tyr4722=
XM_011527204.1:c.14196C>T XP_011525506.1:p.Tyr4732=
XM_011527205.1:c.14112C>T XP_011525507.1:p.Tyr4704=
XM_006723317.2:c.14181C>T XP_006723380.1:p.Tyr4727=
XM_006723319.2:c.14166C>T XP_006723382.1:p.Tyr4722=
XM_011527205.2:c.14112C>T XP_011525507.1:p.Tyr4704=
NM_000540.3:c.14199C>T MANE Select NP_000531.2:p.Tyr4733=
NM_001042723.2:c.14184C>T NP_001036188.1:p.Tyr4728=
Search 100 bp 5'
Search 100 bp 3'