Canonical Allele Identifier: CA507245869
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2888133
ClinVar RCV Id: RCV003758108
MyVariant Identifiers: chr19:g.39068623G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38577983G>A , CM000681.2:g.38577983G>A GRCh38
NC_000019.9:g.39068623G>A , CM000681.1:g.39068623G>A GRCh37
NC_000019.8:g.43760463G>A NCBI36
NG_008866.1:g.149284G>A , LRG_766:g.149284G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1174G>A
ENST00000688602.1:c.2571G>A
ENST00000689936.1:c.2543G>A
ENST00000359596.8:c.14238G>A MANE Select ENSP00000352608.2:p.Leu4746=
ENST00000355481.8:c.14223G>A ENSP00000347667.3:p.Leu4741=
ENST00000359596.7:c.14238G>A ENSP00000352608.2:p.Leu4746=
ENST00000360985.7:c.14220G>A ENSP00000354254.4:p.Leu4740=
NM_000540.2:c.14238G>A , LRG_766t1:c.14238G>A NP_000531.2:p.Leu4746=
NM_001042723.1:c.14223G>A NP_001036188.1:p.Leu4741=
XM_006723317.1:c.14220G>A XP_006723380.1:p.Leu4740=
XM_006723319.1:c.14205G>A XP_006723382.1:p.Leu4735=
XM_011527204.1:c.14235G>A XP_011525506.1:p.Leu4745=
XM_011527205.1:c.14151G>A XP_011525507.1:p.Leu4717=
XM_006723317.2:c.14220G>A XP_006723380.1:p.Leu4740=
XM_006723319.2:c.14205G>A XP_006723382.1:p.Leu4735=
XM_011527205.2:c.14151G>A XP_011525507.1:p.Leu4717=
NM_000540.3:c.14238G>A MANE Select NP_000531.2:p.Leu4746=
NM_001042723.2:c.14223G>A NP_001036188.1:p.Leu4741=
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