Canonical Allele Identifier: CA2335089017
Gene: RYR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38573289G= , CM000681.2:g.38573289G= GRCh38
NC_000019.9:g.39063929G= , CM000681.1:g.39063929G= GRCh37
NC_000019.8:g.43755769G= NCBI36
NG_008866.1:g.144590G= , LRG_766:g.144590G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1047G=
ENST00000688602.1:c.2444G=
ENST00000689936.1:c.2416G=
ENST00000359596.8:c.14111G= MANE Select ENSP00000352608.2:p.Arg4704=
ENST00000355481.8:c.14096G= ENSP00000347667.3:p.Arg4699=
ENST00000359596.7:c.14111G= ENSP00000352608.2:p.Arg4704=
ENST00000360985.7:c.14093G= ENSP00000354254.4:p.Arg4698=
NM_000540.2:c.14111G= , LRG_766t1:c.14111G= NP_000531.2:p.Arg4704=
NM_001042723.1:c.14096G= NP_001036188.1:p.Arg4699=
XM_006723317.1:c.14093G= XP_006723380.1:p.Arg4698=
XM_006723319.1:c.14078G= XP_006723382.1:p.Arg4693=
XM_011527204.1:c.14108G= XP_011525506.1:p.Arg4703=
XM_011527205.1:c.14024G= XP_011525507.1:p.Arg4675=
XM_006723317.2:c.14093G= XP_006723380.1:p.Arg4698=
XM_006723319.2:c.14078G= XP_006723382.1:p.Arg4693=
XM_011527205.2:c.14024G= XP_011525507.1:p.Arg4675=
NM_000540.3:c.14111G= MANE Select NP_000531.2:p.Arg4704=
NM_001042723.2:c.14096G= NP_001036188.1:p.Arg4699=