Canonical Allele Identifier: CA2335091323
Gene: RYR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578019G= , CM000681.2:g.38578019G= GRCh38
NC_000019.9:g.39068659G= , CM000681.1:g.39068659G= GRCh37
NC_000019.8:g.43760499G= NCBI36
NG_008866.1:g.149320G= , LRG_766:g.149320G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1210G=
ENST00000688602.1:c.2607G=
ENST00000689936.1:c.2579G=
ENST00000359596.8:c.14274G= MANE Select ENSP00000352608.2:p.Lys4758=
ENST00000355481.8:c.14259G= ENSP00000347667.3:p.Lys4753=
ENST00000359596.7:c.14274G= ENSP00000352608.2:p.Lys4758=
ENST00000360985.7:c.14256G= ENSP00000354254.4:p.Lys4752=
NM_000540.2:c.14274G= , LRG_766t1:c.14274G= NP_000531.2:p.Lys4758=
NM_001042723.1:c.14259G= NP_001036188.1:p.Lys4753=
XM_006723317.1:c.14256G= XP_006723380.1:p.Lys4752=
XM_006723319.1:c.14241G= XP_006723382.1:p.Lys4747=
XM_011527204.1:c.14271G= XP_011525506.1:p.Lys4757=
XM_011527205.1:c.14187G= XP_011525507.1:p.Lys4729=
XM_006723317.2:c.14256G= XP_006723380.1:p.Lys4752=
XM_006723319.2:c.14241G= XP_006723382.1:p.Lys4747=
XM_011527205.2:c.14187G= XP_011525507.1:p.Lys4729=
NM_000540.3:c.14274G= MANE Select NP_000531.2:p.Lys4758=
NM_001042723.2:c.14259G= NP_001036188.1:p.Lys4753=