Canonical Allele Identifier: CA507245722
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2890132
ClinVar RCV Id: RCV003756691
dbSNP Id: rs1177640045
gnomAD v2: 19-39068575-G-A
gnomAD v4: 19-38577935-G-A
MyVariant Identifiers: chr19:g.39068575G>A (hg19) chr19:g.38577935G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38577935G>A , CM000681.2:g.38577935G>A GRCh38
NC_000019.9:g.39068575G>A , CM000681.1:g.39068575G>A GRCh37
NC_000019.8:g.43760415G>A NCBI36
NG_008866.1:g.149236G>A , LRG_766:g.149236G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1126G>A
ENST00000688602.1:c.2523G>A
ENST00000689936.1:c.2495G>A
ENST00000359596.8:c.14190G>A MANE Select ENSP00000352608.2:p.Gly4730=
ENST00000355481.8:c.14175G>A ENSP00000347667.3:p.Gly4725=
ENST00000359596.7:c.14190G>A ENSP00000352608.2:p.Gly4730=
ENST00000360985.7:c.14172G>A ENSP00000354254.4:p.Gly4724=
NM_000540.2:c.14190G>A , LRG_766t1:c.14190G>A NP_000531.2:p.Gly4730=
NM_001042723.1:c.14175G>A NP_001036188.1:p.Gly4725=
XM_006723317.1:c.14172G>A XP_006723380.1:p.Gly4724=
XM_006723319.1:c.14157G>A XP_006723382.1:p.Gly4719=
XM_011527204.1:c.14187G>A XP_011525506.1:p.Gly4729=
XM_011527205.1:c.14103G>A XP_011525507.1:p.Gly4701=
XM_006723317.2:c.14172G>A XP_006723380.1:p.Gly4724=
XM_006723319.2:c.14157G>A XP_006723382.1:p.Gly4719=
XM_011527205.2:c.14103G>A XP_011525507.1:p.Gly4701=
NM_000540.3:c.14190G>A MANE Select NP_000531.2:p.Gly4730=
NM_001042723.2:c.14175G>A NP_001036188.1:p.Gly4725=
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