Canonical Allele Identifier: CA2335061967
Gene: RYR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38517317G= , CM000681.2:g.38517317G= GRCh38
NC_000019.9:g.39007957G= , CM000681.1:g.39007957G= GRCh37
NC_000019.8:g.43699797G= NCBI36
NG_008866.1:g.88618G= , LRG_766:g.88618G=

Transcript Alleles

HGVS Amino-acid change
ENST00000599547.6:c.9625-42G= ENSP00000471601.2:n.9625-42G=
ENST00000359596.8:c.9686-42G= MANE Select ENSP00000352608.2:n.9686-42G=
ENST00000355481.8:c.9686-42G= ENSP00000347667.3:n.9686-42G=
ENST00000359596.7:c.9686-42G= ENSP00000352608.2:n.9686-42G=
ENST00000360985.7:c.9683-42G= ENSP00000354254.4:n.9683-42G=
ENST00000594335.5:c.3088-42G=
ENST00000599547.5:c.493-42G=
NM_000540.2:c.9686-42G= , LRG_766t1:c.9686-42G= NP_000531.2:n.9686-42G=
NM_001042723.1:c.9686-42G= NP_001036188.1:n.9686-42G=
XM_006723317.1:c.9686-42G= XP_006723380.1:n.9686-42G=
XM_006723319.1:c.9686-42G= XP_006723382.1:n.9686-42G=
XM_011527204.1:c.9683-42G= XP_011525506.1:n.9683-42G=
XM_011527205.1:c.9686-42G= XP_011525507.1:n.9686-42G=
XM_006723317.2:c.9686-42G= XP_006723380.1:n.9686-42G=
XM_006723319.2:c.9686-42G= XP_006723382.1:n.9686-42G=
XM_011527205.2:c.9686-42G= XP_011525507.1:n.9686-42G=
XR_001753735.1:n.9719-42G=
NM_000540.3:c.9686-42G= MANE Select NP_000531.2:n.9686-42G=
NM_001042723.2:c.9686-42G= NP_001036188.1:n.9686-42G=