Canonical Allele Identifier: CA081145
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1596279
ClinVar RCV Id: RCV002117332
dbSNP Id: rs1468571
ExAC: 19:39068641 A / T
gnomAD v2: 19-39068641-A-T
gnomAD v3: 19-38578001-A-T
gnomAD v4: 19-38578001-A-T
MyVariant Identifiers: chr19:g.39068641A>T (hg19) chr19:g.38578001A>T (hg38)
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Genomic Alleles

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

Transcript Alleles

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