Canonical Allele Identifier: CA507245890
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 759300
ClinVar RCV Id: RCV001483403
dbSNP Id: rs1599660227
MyVariant Identifiers: chr19:g.39068653G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578013G>A , CM000681.2:g.38578013G>A GRCh38
NC_000019.9:g.39068653G>A , CM000681.1:g.39068653G>A GRCh37
NC_000019.8:g.43760493G>A NCBI36
NG_008866.1:g.149314G>A , LRG_766:g.149314G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1204G>A
ENST00000688602.1:c.2601G>A
ENST00000689936.1:c.2573G>A
ENST00000359596.8:c.14268G>A MANE Select ENSP00000352608.2:p.Glu4756=
ENST00000355481.8:c.14253G>A ENSP00000347667.3:p.Glu4751=
ENST00000359596.7:c.14268G>A ENSP00000352608.2:p.Glu4756=
ENST00000360985.7:c.14250G>A ENSP00000354254.4:p.Glu4750=
NM_000540.2:c.14268G>A , LRG_766t1:c.14268G>A NP_000531.2:p.Glu4756=
NM_001042723.1:c.14253G>A NP_001036188.1:p.Glu4751=
XM_006723317.1:c.14250G>A XP_006723380.1:p.Glu4750=
XM_006723319.1:c.14235G>A XP_006723382.1:p.Glu4745=
XM_011527204.1:c.14265G>A XP_011525506.1:p.Glu4755=
XM_011527205.1:c.14181G>A XP_011525507.1:p.Glu4727=
XM_006723317.2:c.14250G>A XP_006723380.1:p.Glu4750=
XM_006723319.2:c.14235G>A XP_006723382.1:p.Glu4745=
XM_011527205.2:c.14181G>A XP_011525507.1:p.Glu4727=
NM_000540.3:c.14268G>A MANE Select NP_000531.2:p.Glu4756=
NM_001042723.2:c.14253G>A NP_001036188.1:p.Glu4751=
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