Canonical Allele Identifier: CA2335074326
Gene: RYR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38543400_38543401delinsAT , CM000681.2:g.38543400_38543401delinsAT GRCh38
NC_000019.9:g.39034040_39034041delinsAT , CM000681.1:g.39034040_39034041delinsAT GRCh37
NC_000019.8:g.43725880_43725881delinsAT NCBI36
NG_008866.1:g.114701_114702delinsAT , LRG_766:g.114701_114702delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000688602.1:c.153_154delinsAT
ENST00000689936.1:c.135_136delinsAT
ENST00000359596.8:c.11743_11744delinsAT MANE Select ENSP00000352608.2:p.Ile3915=
ENST00000355481.8:c.11728_11729delinsAT ENSP00000347667.3:p.Ile3910=
ENST00000359596.7:c.11743_11744delinsAT ENSP00000352608.2:p.Ile3915=
ENST00000360985.7:c.11725_11726delinsAT ENSP00000354254.4:p.Ile3909=
ENST00000593322.1:c.352_353delinsAT
ENST00000594335.5:c.5112_5113delinsAT
NM_000540.2:c.11743_11744delinsAT , LRG_766t1:c.11743_11744delinsAT NP_000531.2:p.Ile3915=
NM_001042723.1:c.11728_11729delinsAT NP_001036188.1:p.Ile3910=
XM_006723317.1:c.11725_11726delinsAT XP_006723380.1:p.Ile3909=
XM_006723319.1:c.11710_11711delinsAT XP_006723382.1:p.Ile3904=
XM_011527204.1:c.11740_11741delinsAT XP_011525506.1:p.Ile3914=
XM_011527205.1:c.11743_11744delinsAT XP_011525507.1:p.Ile3915=
XM_006723317.2:c.11725_11726delinsAT XP_006723380.1:p.Ile3909=
XM_006723319.2:c.11710_11711delinsAT XP_006723382.1:p.Ile3904=
XM_011527205.2:c.11743_11744delinsAT XP_011525507.1:p.Ile3915=
NM_000540.3:c.11743_11744delinsAT MANE Select NP_000531.2:p.Ile3915=
NM_001042723.2:c.11728_11729delinsAT NP_001036188.1:p.Ile3910=