Canonical Allele Identifier: CA308120110
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1334343
ClinVar RCV Id: RCV001813857 RCV002542454 RCV004009159
dbSNP Id: rs1002217883
MyVariant Identifiers: chr19:g.39068634A>T (hg19) chr19:g.38577994A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38577994A>T , CM000681.2:g.38577994A>T GRCh38
NC_000019.9:g.39068634A>T , CM000681.1:g.39068634A>T GRCh37
NC_000019.8:g.43760474A>T NCBI36
NG_008866.1:g.149295A>T , LRG_766:g.149295A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1185A>T
ENST00000688602.1:c.2582A>T
ENST00000689936.1:c.2554A>T
ENST00000359596.8:c.14249A>T MANE Select ENSP00000352608.2:p.Glu4750Val
ENST00000355481.8:c.14234A>T ENSP00000347667.3:p.Glu4745Val
ENST00000359596.7:c.14249A>T ENSP00000352608.2:p.Glu4750Val
ENST00000360985.7:c.14231A>T ENSP00000354254.4:p.Glu4744Val
NM_000540.2:c.14249A>T , LRG_766t1:c.14249A>T NP_000531.2:p.Glu4750Val
NM_001042723.1:c.14234A>T NP_001036188.1:p.Glu4745Val
XM_006723317.1:c.14231A>T XP_006723380.1:p.Glu4744Val
XM_006723319.1:c.14216A>T XP_006723382.1:p.Glu4739Val
XM_011527204.1:c.14246A>T XP_011525506.1:p.Glu4749Val
XM_011527205.1:c.14162A>T XP_011525507.1:p.Glu4721Val
XM_006723317.2:c.14231A>T XP_006723380.1:p.Glu4744Val
XM_006723319.2:c.14216A>T XP_006723382.1:p.Glu4739Val
XM_011527205.2:c.14162A>T XP_011525507.1:p.Glu4721Val
NM_000540.3:c.14249A>T MANE Select NP_000531.2:p.Glu4750Val
NM_001042723.2:c.14234A>T NP_001036188.1:p.Glu4745Val
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