Canonical Allele Identifier: CA405652834
Gene: RYR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.38976279C>A (hg19) chr19:g.38485639C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38485639C>A , CM000681.2:g.38485639C>A GRCh38
NC_000019.9:g.38976279C>A , CM000681.1:g.38976279C>A GRCh37
NC_000019.8:g.43668119C>A NCBI36
NG_008866.1:g.56940C>A , LRG_766:g.56940C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.4984C>A ENSP00000471601.2:p.His1662Asn
ENST00000359596.8:c.4984C>A MANE Select ENSP00000352608.2:p.His1662Asn
ENST00000355481.8:c.4984C>A ENSP00000347667.3:p.His1662Asn
ENST00000359596.7:c.4984C>A ENSP00000352608.2:p.His1662Asn
ENST00000360985.7:c.4981C>A ENSP00000354254.4:p.His1661Asn
NM_000540.2:c.4984C>A , LRG_766t1:c.4984C>A NP_000531.2:p.His1662Asn
NM_001042723.1:c.4984C>A NP_001036188.1:p.His1662Asn
XM_006723317.1:c.4984C>A XP_006723380.1:p.His1662Asn
XM_006723319.1:c.4984C>A XP_006723382.1:p.His1662Asn
XM_011527204.1:c.4981C>A XP_011525506.1:p.His1661Asn
XM_011527205.1:c.4984C>A XP_011525507.1:p.His1662Asn
XM_006723317.2:c.4984C>A XP_006723380.1:p.His1662Asn
XM_006723319.2:c.4984C>A XP_006723382.1:p.His1662Asn
XM_011527205.2:c.4984C>A XP_011525507.1:p.His1662Asn
XR_001753735.1:n.5067C>A
NM_000540.3:c.4984C>A MANE Select NP_000531.2:p.His1662Asn
NM_001042723.2:c.4984C>A NP_001036188.1:p.His1662Asn
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