Canonical Allele Identifier: CA2335091406
Gene: RYR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578172A= , CM000681.2:g.38578172A= GRCh38
NC_000019.9:g.39068812A= , CM000681.1:g.39068812A= GRCh37
NC_000019.8:g.43760652A= NCBI36
NG_008866.1:g.149473A= , LRG_766:g.149473A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1268A=
ENST00000688602.1:c.2665A=
ENST00000689936.1:c.2637A=
ENST00000359596.8:c.14332A= MANE Select ENSP00000352608.2:p.Ile4778=
ENST00000355481.8:c.14317A= ENSP00000347667.3:p.Ile4773=
ENST00000359596.7:c.14332A= ENSP00000352608.2:p.Ile4778=
ENST00000360985.7:c.14314A= ENSP00000354254.4:p.Ile4772=
NM_000540.2:c.14332A= , LRG_766t1:c.14332A= NP_000531.2:p.Ile4778=
NM_001042723.1:c.14317A= NP_001036188.1:p.Ile4773=
XM_006723317.1:c.14314A= XP_006723380.1:p.Ile4772=
XM_006723319.1:c.14299A= XP_006723382.1:p.Ile4767=
XM_011527204.1:c.14329A= XP_011525506.1:p.Ile4777=
XM_011527205.1:c.14245A= XP_011525507.1:p.Ile4749=
XM_006723317.2:c.14314A= XP_006723380.1:p.Ile4772=
XM_006723319.2:c.14299A= XP_006723382.1:p.Ile4767=
XM_011527205.2:c.14245A= XP_011525507.1:p.Ile4749=
NM_000540.3:c.14332A= MANE Select NP_000531.2:p.Ile4778=
NM_001042723.2:c.14317A= NP_001036188.1:p.Ile4773=