Canonical Allele Identifier: CA2335074404
Gene: RYR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38543521G= , CM000681.2:g.38543521G= GRCh38
NC_000019.9:g.39034161G= , CM000681.1:g.39034161G= GRCh37
NC_000019.8:g.43726001G= NCBI36
NG_008866.1:g.114822G= , LRG_766:g.114822G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000688602.1:c.189-11G=
ENST00000689936.1:c.171-11G=
ENST00000359596.8:c.11779-11G= MANE Select ENSP00000352608.2:n.11779-11G=
ENST00000355481.8:c.11764-11G= ENSP00000347667.3:n.11764-11G=
ENST00000359596.7:c.11779-11G= ENSP00000352608.2:n.11779-11G=
ENST00000360985.7:c.11761-11G= ENSP00000354254.4:n.11761-11G=
ENST00000593322.1:c.388-11G=
ENST00000594335.5:c.5148-11G=
NM_000540.2:c.11779-11G= , LRG_766t1:c.11779-11G= NP_000531.2:n.11779-11G=
NM_001042723.1:c.11764-11G= NP_001036188.1:n.11764-11G=
XM_006723317.1:c.11761-11G= XP_006723380.1:n.11761-11G=
XM_006723319.1:c.11746-11G= XP_006723382.1:n.11746-11G=
XM_011527204.1:c.11776-11G= XP_011525506.1:n.11776-11G=
XM_011527205.1:c.11779-11G= XP_011525507.1:n.11779-11G=
XM_006723317.2:c.11761-11G= XP_006723380.1:n.11761-11G=
XM_006723319.2:c.11746-11G= XP_006723382.1:n.11746-11G=
XM_011527205.2:c.11779-11G= XP_011525507.1:n.11779-11G=
NM_000540.3:c.11779-11G= MANE Select NP_000531.2:n.11779-11G=
NM_001042723.2:c.11764-11G= NP_001036188.1:n.11764-11G=