Canonical Allele Identifier: CA2335091413
Gene: RYR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578193T= , CM000681.2:g.38578193T= GRCh38
NC_000019.9:g.39068833T= , CM000681.1:g.39068833T= GRCh37
NC_000019.8:g.43760673T= NCBI36
NG_008866.1:g.149494T= , LRG_766:g.149494T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1289T=
ENST00000688602.1:c.2686T=
ENST00000689936.1:c.2658T=
ENST00000359596.8:c.14353T= MANE Select ENSP00000352608.2:p.Phe4785=
ENST00000355481.8:c.14338T= ENSP00000347667.3:p.Phe4780=
ENST00000359596.7:c.14353T= ENSP00000352608.2:p.Phe4785=
ENST00000360985.7:c.14335T= ENSP00000354254.4:p.Phe4779=
NM_000540.2:c.14353T= , LRG_766t1:c.14353T= NP_000531.2:p.Phe4785=
NM_001042723.1:c.14338T= NP_001036188.1:p.Phe4780=
XM_006723317.1:c.14335T= XP_006723380.1:p.Phe4779=
XM_006723319.1:c.14320T= XP_006723382.1:p.Phe4774=
XM_011527204.1:c.14350T= XP_011525506.1:p.Phe4784=
XM_011527205.1:c.14266T= XP_011525507.1:p.Phe4756=
XM_006723317.2:c.14335T= XP_006723380.1:p.Phe4779=
XM_006723319.2:c.14320T= XP_006723382.1:p.Phe4774=
XM_011527205.2:c.14266T= XP_011525507.1:p.Phe4756=
NM_000540.3:c.14353T= MANE Select NP_000531.2:p.Phe4785=
NM_001042723.2:c.14338T= NP_001036188.1:p.Phe4780=