Canonical Allele Identifier: CA405653428
Gene: RYR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.38976351A>T (hg19) chr19:g.38485711A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38485711A>T , CM000681.2:g.38485711A>T GRCh38
NC_000019.9:g.38976351A>T , CM000681.1:g.38976351A>T GRCh37
NC_000019.8:g.43668191A>T NCBI36
NG_008866.1:g.57012A>T , LRG_766:g.57012A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.5056A>T ENSP00000471601.2:p.Ser1686Cys
ENST00000359596.8:c.5056A>T MANE Select ENSP00000352608.2:p.Ser1686Cys
ENST00000355481.8:c.5056A>T ENSP00000347667.3:p.Ser1686Cys
ENST00000359596.7:c.5056A>T ENSP00000352608.2:p.Ser1686Cys
ENST00000360985.7:c.5053A>T ENSP00000354254.4:p.Ser1685Cys
NM_000540.2:c.5056A>T , LRG_766t1:c.5056A>T NP_000531.2:p.Ser1686Cys
NM_001042723.1:c.5056A>T NP_001036188.1:p.Ser1686Cys
XM_006723317.1:c.5056A>T XP_006723380.1:p.Ser1686Cys
XM_006723319.1:c.5056A>T XP_006723382.1:p.Ser1686Cys
XM_011527204.1:c.5053A>T XP_011525506.1:p.Ser1685Cys
XM_011527205.1:c.5056A>T XP_011525507.1:p.Ser1686Cys
XM_006723317.2:c.5056A>T XP_006723380.1:p.Ser1686Cys
XM_006723319.2:c.5056A>T XP_006723382.1:p.Ser1686Cys
XM_011527205.2:c.5056A>T XP_011525507.1:p.Ser1686Cys
XR_001753735.1:n.5139A>T
NM_000540.3:c.5056A>T MANE Select NP_000531.2:p.Ser1686Cys
NM_001042723.2:c.5056A>T NP_001036188.1:p.Ser1686Cys
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