Canonical Allele Identifier: CA2335089004
Gene: RYR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38573263C= , CM000681.2:g.38573263C= GRCh38
NC_000019.9:g.39063903C= , CM000681.1:g.39063903C= GRCh37
NC_000019.8:g.43755743C= NCBI36
NG_008866.1:g.144564C= , LRG_766:g.144564C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1021C=
ENST00000688602.1:c.2418C=
ENST00000689936.1:c.2390C=
ENST00000359596.8:c.14085C= MANE Select ENSP00000352608.2:p.Asp4695=
ENST00000355481.8:c.14070C= ENSP00000347667.3:p.Asp4690=
ENST00000359596.7:c.14085C= ENSP00000352608.2:p.Asp4695=
ENST00000360985.7:c.14067C= ENSP00000354254.4:p.Asp4689=
NM_000540.2:c.14085C= , LRG_766t1:c.14085C= NP_000531.2:p.Asp4695=
NM_001042723.1:c.14070C= NP_001036188.1:p.Asp4690=
XM_006723317.1:c.14067C= XP_006723380.1:p.Asp4689=
XM_006723319.1:c.14052C= XP_006723382.1:p.Asp4684=
XM_011527204.1:c.14082C= XP_011525506.1:p.Asp4694=
XM_011527205.1:c.13998C= XP_011525507.1:p.Asp4666=
XM_006723317.2:c.14067C= XP_006723380.1:p.Asp4689=
XM_006723319.2:c.14052C= XP_006723382.1:p.Asp4684=
XM_011527205.2:c.13998C= XP_011525507.1:p.Asp4666=
NM_000540.3:c.14085C= MANE Select NP_000531.2:p.Asp4695=
NM_001042723.2:c.14070C= NP_001036188.1:p.Asp4690=