Canonical Allele Identifier: CA024124
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 93254
ClinVar RCV Id: RCV000079131 RCV000119506 RCV000262054 RCV000319574 RCV000373066 RCV000385820 RCV001514073
dbSNP Id: rs1468571
ExAC: 19:39068641 A / C
gnomAD v2: 19-39068641-A-C
gnomAD v3: 19-38578001-A-C
gnomAD v4: 19-38578001-A-C
MyVariant Identifiers: chr19:g.39068641A>C (hg19) chr19:g.38578001A>C (hg38)
PubMed: PMID:16917943
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578001A>C , CM000681.2:g.38578001A>C GRCh38
NC_000019.9:g.39068641A>C , CM000681.1:g.39068641A>C GRCh37
NC_000019.8:g.43760481A>C NCBI36
NG_008866.1:g.149302A>C , LRG_766:g.149302A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1192A>C
ENST00000688602.1:c.2589A>C
ENST00000689936.1:c.2561A>C
ENST00000359596.8:c.14256A>C MANE Select ENSP00000352608.2:p.Thr4752=
ENST00000355481.8:c.14241A>C ENSP00000347667.3:p.Thr4747=
ENST00000359596.7:c.14256A>C ENSP00000352608.2:p.Thr4752=
ENST00000360985.7:c.14238A>C ENSP00000354254.4:p.Thr4746=
NM_000540.2:c.14256A>C , LRG_766t1:c.14256A>C NP_000531.2:p.Thr4752=
NM_001042723.1:c.14241A>C NP_001036188.1:p.Thr4747=
XM_006723317.1:c.14238A>C XP_006723380.1:p.Thr4746=
XM_006723319.1:c.14223A>C XP_006723382.1:p.Thr4741=
XM_011527204.1:c.14253A>C XP_011525506.1:p.Thr4751=
XM_011527205.1:c.14169A>C XP_011525507.1:p.Thr4723=
XM_006723317.2:c.14238A>C XP_006723380.1:p.Thr4746=
XM_006723319.2:c.14223A>C XP_006723382.1:p.Thr4741=
XM_011527205.2:c.14169A>C XP_011525507.1:p.Thr4723=
NM_000540.3:c.14256A>C MANE Select NP_000531.2:p.Thr4752=
NM_001042723.2:c.14241A>C NP_001036188.1:p.Thr4747=
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