Canonical Allele Identifier: CA2335088970
Gene: RYR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38573185G= , CM000681.2:g.38573185G= GRCh38
NC_000019.9:g.39063825G= , CM000681.1:g.39063825G= GRCh37
NC_000019.8:g.43755665G= NCBI36
NG_008866.1:g.144486G= , LRG_766:g.144486G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.943G=
ENST00000688602.1:c.2340G=
ENST00000689936.1:c.2312G=
ENST00000359596.8:c.14007G= MANE Select ENSP00000352608.2:p.Leu4669=
ENST00000355481.8:c.13992G= ENSP00000347667.3:p.Leu4664=
ENST00000359596.7:c.14007G= ENSP00000352608.2:p.Leu4669=
ENST00000360985.7:c.13989G= ENSP00000354254.4:p.Leu4663=
NM_000540.2:c.14007G= , LRG_766t1:c.14007G= NP_000531.2:p.Leu4669=
NM_001042723.1:c.13992G= NP_001036188.1:p.Leu4664=
XM_006723317.1:c.13989G= XP_006723380.1:p.Leu4663=
XM_006723319.1:c.13974G= XP_006723382.1:p.Leu4658=
XM_011527204.1:c.14004G= XP_011525506.1:p.Leu4668=
XM_011527205.1:c.13920G= XP_011525507.1:p.Leu4640=
XM_006723317.2:c.13989G= XP_006723380.1:p.Leu4663=
XM_006723319.2:c.13974G= XP_006723382.1:p.Leu4658=
XM_011527205.2:c.13920G= XP_011525507.1:p.Leu4640=
NM_000540.3:c.14007G= MANE Select NP_000531.2:p.Leu4669=
NM_001042723.2:c.13992G= NP_001036188.1:p.Leu4664=