Canonical Allele Identifier: CA2335074502
Gene: RYR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38543742T= , CM000681.2:g.38543742T= GRCh38
NC_000019.9:g.39034382T= , CM000681.1:g.39034382T= GRCh37
NC_000019.8:g.43726222T= NCBI36
NG_008866.1:g.115043T= , LRG_766:g.115043T=

Transcript Alleles

HGVS Amino-acid change
ENST00000688602.1:c.318-29T=
ENST00000689936.1:c.300-29T=
ENST00000359596.8:c.11908-29T= MANE Select ENSP00000352608.2:n.11908-29T=
ENST00000355481.8:c.11893-29T= ENSP00000347667.3:n.11893-29T=
ENST00000359596.7:c.11908-29T= ENSP00000352608.2:n.11908-29T=
ENST00000360985.7:c.11890-29T= ENSP00000354254.4:n.11890-29T=
ENST00000593322.1:c.517-29T=
ENST00000594335.5:c.5277-29T=
NM_000540.2:c.11908-29T= , LRG_766t1:c.11908-29T= NP_000531.2:n.11908-29T=
NM_001042723.1:c.11893-29T= NP_001036188.1:n.11893-29T=
XM_006723317.1:c.11890-29T= XP_006723380.1:n.11890-29T=
XM_006723319.1:c.11875-29T= XP_006723382.1:n.11875-29T=
XM_011527204.1:c.11905-29T= XP_011525506.1:n.11905-29T=
XM_011527205.1:c.11908-29T= XP_011525507.1:n.11908-29T=
XM_006723317.2:c.11890-29T= XP_006723380.1:n.11890-29T=
XM_006723319.2:c.11875-29T= XP_006723382.1:n.11875-29T=
XM_011527205.2:c.11908-29T= XP_011525507.1:n.11908-29T=
NM_000540.3:c.11908-29T= MANE Select NP_000531.2:n.11908-29T=
NM_001042723.2:c.11893-29T= NP_001036188.1:n.11893-29T=