Canonical Allele Identifier: CA2335096064
Gene: RYR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38587254A= , CM000681.2:g.38587254A= GRCh38
NC_000019.9:g.39077894A= , CM000681.1:g.39077894A= GRCh37
NC_000019.8:g.43769734A= NCBI36
NG_008866.1:g.158555A= , LRG_766:g.158555A=

Transcript Alleles

HGVS Amino-acid change
ENST00000593677.2:c.1957+678A=
ENST00000688602.1:c.3355-71A=
ENST00000689936.1:c.3327-71A=
ENST00000692547.1:n.415-71A=
ENST00000359596.8:c.15022-71A= MANE Select ENSP00000352608.2:n.15022-71A=
ENST00000355481.8:c.15007-71A= ENSP00000347667.3:n.15007-71A=
ENST00000359596.7:c.15022-71A= ENSP00000352608.2:n.15022-71A=
ENST00000360985.7:c.15004-71A= ENSP00000354254.4:n.15004-71A=
NM_000540.2:c.15022-71A= , LRG_766t1:c.15022-71A= NP_000531.2:n.15022-71A=
NM_001042723.1:c.15007-71A= NP_001036188.1:n.15007-71A=
XM_006723317.1:c.15004-71A= XP_006723380.1:n.15004-71A=
XM_006723319.1:c.14989-71A= XP_006723382.1:n.14989-71A=
XM_011527204.1:c.15019-71A= XP_011525506.1:n.15019-71A=
XM_011527205.1:c.14935-71A= XP_011525507.1:n.14935-71A=
XM_006723317.2:c.15004-71A= XP_006723380.1:n.15004-71A=
XM_006723319.2:c.14989-71A= XP_006723382.1:n.14989-71A=
XM_011527205.2:c.14935-71A= XP_011525507.1:n.14935-71A=
NM_000540.3:c.15022-71A= MANE Select NP_000531.2:n.15022-71A=
NM_001042723.2:c.15007-71A= NP_001036188.1:n.15007-71A=