Canonical Allele Identifier: CA2335088449
Gene: RYR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38572217C= , CM000681.2:g.38572217C= GRCh38
NC_000019.9:g.39062857C= , CM000681.1:g.39062857C= GRCh37
NC_000019.8:g.43754697C= NCBI36
NG_008866.1:g.143518C= , LRG_766:g.143518C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.881C=
ENST00000688602.1:c.2278C=
ENST00000689936.1:c.2250C=
ENST00000359596.8:c.13945C= MANE Select ENSP00000352608.2:p.Leu4649=
ENST00000355481.8:c.13930C= ENSP00000347667.3:p.Leu4644=
ENST00000359596.7:c.13945C= ENSP00000352608.2:p.Leu4649=
ENST00000360985.7:c.13927C= ENSP00000354254.4:p.Leu4643=
ENST00000593677.1:c.405C=
NM_000540.2:c.13945C= , LRG_766t1:c.13945C= NP_000531.2:p.Leu4649=
NM_001042723.1:c.13930C= NP_001036188.1:p.Leu4644=
XM_006723317.1:c.13927C= XP_006723380.1:p.Leu4643=
XM_006723319.1:c.13912C= XP_006723382.1:p.Leu4638=
XM_011527204.1:c.13942C= XP_011525506.1:p.Leu4648=
XM_011527205.1:c.13858C= XP_011525507.1:p.Leu4620=
XM_006723317.2:c.13927C= XP_006723380.1:p.Leu4643=
XM_006723319.2:c.13912C= XP_006723382.1:p.Leu4638=
XM_011527205.2:c.13858C= XP_011525507.1:p.Leu4620=
NM_000540.3:c.13945C= MANE Select NP_000531.2:p.Leu4649=
NM_001042723.2:c.13930C= NP_001036188.1:p.Leu4644=