Canonical Allele Identifier: CA061016
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2435604
ClinVar RCV Id: RCV003130467
dbSNP Id: rs769528396
ExAC: 19:39068643 C / T
gnomAD v2: 19-39068643-C-T
gnomAD v3: 19-38578003-C-T
gnomAD v4: 19-38578003-C-T
MyVariant Identifiers: chr19:g.39068643C>T (hg19) chr19:g.38578003C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578003C>T , CM000681.2:g.38578003C>T GRCh38
NC_000019.9:g.39068643C>T , CM000681.1:g.39068643C>T GRCh37
NC_000019.8:g.43760483C>T NCBI36
NG_008866.1:g.149304C>T , LRG_766:g.149304C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1194C>T
ENST00000688602.1:c.2591C>T
ENST00000689936.1:c.2563C>T
ENST00000359596.8:c.14258C>T MANE Select ENSP00000352608.2:p.Ala4753Val
ENST00000355481.8:c.14243C>T ENSP00000347667.3:p.Ala4748Val
ENST00000359596.7:c.14258C>T ENSP00000352608.2:p.Ala4753Val
ENST00000360985.7:c.14240C>T ENSP00000354254.4:p.Ala4747Val
NM_000540.2:c.14258C>T , LRG_766t1:c.14258C>T NP_000531.2:p.Ala4753Val
NM_001042723.1:c.14243C>T NP_001036188.1:p.Ala4748Val
XM_006723317.1:c.14240C>T XP_006723380.1:p.Ala4747Val
XM_006723319.1:c.14225C>T XP_006723382.1:p.Ala4742Val
XM_011527204.1:c.14255C>T XP_011525506.1:p.Ala4752Val
XM_011527205.1:c.14171C>T XP_011525507.1:p.Ala4724Val
XM_006723317.2:c.14240C>T XP_006723380.1:p.Ala4747Val
XM_006723319.2:c.14225C>T XP_006723382.1:p.Ala4742Val
XM_011527205.2:c.14171C>T XP_011525507.1:p.Ala4724Val
NM_000540.3:c.14258C>T MANE Select NP_000531.2:p.Ala4753Val
NM_001042723.2:c.14243C>T NP_001036188.1:p.Ala4748Val
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