Canonical Allele Identifier: CA024778
Community Standard Title: NM_000540.3(RYR1):c.7360C>T (p.Arg2454Cys)
Gene: RYR1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38500642C>T , CM000681.2:g.38500642C>T GRCh38
NC_000019.9:g.38991282C>T , CM000681.1:g.38991282C>T GRCh37
NC_000019.8:g.43683122C>T NCBI36
NG_008866.1:g.71943C>T , LRG_766:g.71943C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000540.3:c.7360C>T MANE Select NP_000531.2:p.Arg2454Cys
ENST00000359596.8:c.7360C>T MANE Select ENSP00000352608.2:p.Arg2454Cys
NM_000540.2:c.7360C>T , LRG_766t1:c.7360C>T NP_000531.2:p.Arg2454Cys
NM_001042723.1:c.7360C>T NP_001036188.1:p.Arg2454Cys
NM_001042723.2:c.7360C>T NP_001036188.1:p.Arg2454Cys
ENST00000355481.8:c.7360C>T ENSP00000347667.3:p.Arg2454Cys
ENST00000359596.7:c.7360C>T ENSP00000352608.2:p.Arg2454Cys
ENST00000360985.7:c.7357C>T ENSP00000354254.4:p.Arg2453Cys
ENST00000594335.5:c.812C>T
ENST00000599547.6:c.7360C>T ENSP00000471601.2:p.Arg2454Cys
XM_006723317.1:c.7360C>T XP_006723380.1:p.Arg2454Cys
XM_006723317.2:c.7360C>T XP_006723380.1:p.Arg2454Cys
XM_006723319.1:c.7360C>T XP_006723382.1:p.Arg2454Cys
XM_006723319.2:c.7360C>T XP_006723382.1:p.Arg2454Cys
XM_011527204.1:c.7357C>T XP_011525506.1:p.Arg2453Cys
XM_011527205.1:c.7360C>T XP_011525507.1:p.Arg2454Cys
XM_011527205.2:c.7360C>T XP_011525507.1:p.Arg2454Cys
XR_001753735.1:n.7443C>T
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