Canonical Allele Identifier: CA2335091409
Gene: RYR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578184G= , CM000681.2:g.38578184G= GRCh38
NC_000019.9:g.39068824G= , CM000681.1:g.39068824G= GRCh37
NC_000019.8:g.43760664G= NCBI36
NG_008866.1:g.149485G= , LRG_766:g.149485G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1280G=
ENST00000688602.1:c.2677G=
ENST00000689936.1:c.2649G=
ENST00000359596.8:c.14344G= MANE Select ENSP00000352608.2:p.Gly4782=
ENST00000355481.8:c.14329G= ENSP00000347667.3:p.Gly4777=
ENST00000359596.7:c.14344G= ENSP00000352608.2:p.Gly4782=
ENST00000360985.7:c.14326G= ENSP00000354254.4:p.Gly4776=
NM_000540.2:c.14344G= , LRG_766t1:c.14344G= NP_000531.2:p.Gly4782=
NM_001042723.1:c.14329G= NP_001036188.1:p.Gly4777=
XM_006723317.1:c.14326G= XP_006723380.1:p.Gly4776=
XM_006723319.1:c.14311G= XP_006723382.1:p.Gly4771=
XM_011527204.1:c.14341G= XP_011525506.1:p.Gly4781=
XM_011527205.1:c.14257G= XP_011525507.1:p.Gly4753=
XM_006723317.2:c.14326G= XP_006723380.1:p.Gly4776=
XM_006723319.2:c.14311G= XP_006723382.1:p.Gly4771=
XM_011527205.2:c.14257G= XP_011525507.1:p.Gly4753=
NM_000540.3:c.14344G= MANE Select NP_000531.2:p.Gly4782=
NM_001042723.2:c.14329G= NP_001036188.1:p.Gly4777=