Canonical Allele Identifier: CA2335046299
Gene: RYR1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38485891C= , CM000681.2:g.38485891C= GRCh38
NC_000019.9:g.38976531C= , CM000681.1:g.38976531C= GRCh37
NC_000019.8:g.43668371C= NCBI36
NG_008866.1:g.57192C= , LRG_766:g.57192C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.5236C= ENSP00000471601.2:p.Leu1746=
ENST00000359596.8:c.5236C= MANE Select ENSP00000352608.2:p.Leu1746=
ENST00000355481.8:c.5236C= ENSP00000347667.3:p.Leu1746=
ENST00000359596.7:c.5236C= ENSP00000352608.2:p.Leu1746=
ENST00000360985.7:c.5233C= ENSP00000354254.4:p.Leu1745=
NM_000540.2:c.5236C= , LRG_766t1:c.5236C= NP_000531.2:p.Leu1746=
NM_001042723.1:c.5236C= NP_001036188.1:p.Leu1746=
XM_006723317.1:c.5236C= XP_006723380.1:p.Leu1746=
XM_006723319.1:c.5236C= XP_006723382.1:p.Leu1746=
XM_011527204.1:c.5233C= XP_011525506.1:p.Leu1745=
XM_011527205.1:c.5236C= XP_011525507.1:p.Leu1746=
XM_006723317.2:c.5236C= XP_006723380.1:p.Leu1746=
XM_006723319.2:c.5236C= XP_006723382.1:p.Leu1746=
XM_011527205.2:c.5236C= XP_011525507.1:p.Leu1746=
XR_001753735.1:n.5319C=
NM_000540.3:c.5236C= MANE Select NP_000531.2:p.Leu1746=
NM_001042723.2:c.5236C= NP_001036188.1:p.Leu1746=
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