Canonical Allele Identifier: CA2335024287
Gene: RYR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38440657A= , CM000681.2:g.38440657A= GRCh38
NC_000019.9:g.38931297A= , CM000681.1:g.38931297A= GRCh37
NC_000019.8:g.43623137A= NCBI36
NG_008866.1:g.11958A= , LRG_766:g.11958A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.46-88A= ENSP00000471601.2:n.46-88A=
ENST00000359596.8:c.46-88A= MANE Select ENSP00000352608.2:n.46-88A=
ENST00000355481.8:c.46-88A= ENSP00000347667.3:n.46-88A=
ENST00000359596.7:c.46-88A= ENSP00000352608.2:n.46-88A=
ENST00000360985.7:c.46-88A= ENSP00000354254.4:n.46-88A=
NM_000540.2:c.46-88A= , LRG_766t1:c.46-88A= NP_000531.2:n.46-88A=
NM_001042723.1:c.46-88A= NP_001036188.1:n.46-88A=
XM_006723317.1:c.46-88A= XP_006723380.1:n.46-88A=
XM_006723319.1:c.46-88A= XP_006723382.1:n.46-88A=
XM_011527204.1:c.46-88A= XP_011525506.1:n.46-88A=
XM_011527205.1:c.46-88A= XP_011525507.1:n.46-88A=
XM_006723317.2:c.46-88A= XP_006723380.1:n.46-88A=
XM_006723319.2:c.46-88A= XP_006723382.1:n.46-88A=
XM_011527205.2:c.46-88A= XP_011525507.1:n.46-88A=
XR_001753735.1:n.129-88A=
NM_000540.3:c.46-88A= MANE Select NP_000531.2:n.46-88A=
NM_001042723.2:c.46-88A= NP_001036188.1:n.46-88A=