Canonical Allele Identifier: CA2335094936
Gene: RYR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38584968G= , CM000681.2:g.38584968G= GRCh38
NC_000019.9:g.39075608G= , CM000681.1:g.39075608G= GRCh37
NC_000019.8:g.43767448G= NCBI36
NG_008866.1:g.156269G= , LRG_766:g.156269G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1608G=
ENST00000688602.1:c.3005G=
ENST00000689936.1:c.2977G=
ENST00000692547.1:n.65G=
ENST00000359596.8:c.14672G= MANE Select ENSP00000352608.2:p.Gly4891=
ENST00000355481.8:c.14657G= ENSP00000347667.3:p.Gly4886=
ENST00000359596.7:c.14672G= ENSP00000352608.2:p.Gly4891=
ENST00000360985.7:c.14654G= ENSP00000354254.4:p.Gly4885=
NM_000540.2:c.14672G= , LRG_766t1:c.14672G= NP_000531.2:p.Gly4891=
NM_001042723.1:c.14657G= NP_001036188.1:p.Gly4886=
XM_006723317.1:c.14654G= XP_006723380.1:p.Gly4885=
XM_006723319.1:c.14639G= XP_006723382.1:p.Gly4880=
XM_011527204.1:c.14669G= XP_011525506.1:p.Gly4890=
XM_011527205.1:c.14585G= XP_011525507.1:p.Gly4862=
XM_006723317.2:c.14654G= XP_006723380.1:p.Gly4885=
XM_006723319.2:c.14639G= XP_006723382.1:p.Gly4880=
XM_011527205.2:c.14585G= XP_011525507.1:p.Gly4862=
NM_000540.3:c.14672G= MANE Select NP_000531.2:p.Gly4891=
NM_001042723.2:c.14657G= NP_001036188.1:p.Gly4886=