Canonical Allele Identifier: CA2335046390
Gene: RYR1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38486075T= , CM000681.2:g.38486075T= GRCh38
NC_000019.9:g.38976715T= , CM000681.1:g.38976715T= GRCh37
NC_000019.8:g.43668555T= NCBI36
NG_008866.1:g.57376T= , LRG_766:g.57376T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.5420T= ENSP00000471601.2:p.Leu1807=
ENST00000359596.8:c.5420T= MANE Select ENSP00000352608.2:p.Leu1807=
ENST00000355481.8:c.5420T= ENSP00000347667.3:p.Leu1807=
ENST00000359596.7:c.5420T= ENSP00000352608.2:p.Leu1807=
ENST00000360985.7:c.5417T= ENSP00000354254.4:p.Leu1806=
NM_000540.2:c.5420T= , LRG_766t1:c.5420T= NP_000531.2:p.Leu1807=
NM_001042723.1:c.5420T= NP_001036188.1:p.Leu1807=
XM_006723317.1:c.5420T= XP_006723380.1:p.Leu1807=
XM_006723319.1:c.5420T= XP_006723382.1:p.Leu1807=
XM_011527204.1:c.5417T= XP_011525506.1:p.Leu1806=
XM_011527205.1:c.5420T= XP_011525507.1:p.Leu1807=
XM_006723317.2:c.5420T= XP_006723380.1:p.Leu1807=
XM_006723319.2:c.5420T= XP_006723382.1:p.Leu1807=
XM_011527205.2:c.5420T= XP_011525507.1:p.Leu1807=
XR_001753735.1:n.5503T=
NM_000540.3:c.5420T= MANE Select NP_000531.2:p.Leu1807=
NM_001042723.2:c.5420T= NP_001036188.1:p.Leu1807=
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