Canonical Allele Identifier: CA405681931
Gene: RYR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38573201G>C , CM000681.2:g.38573201G>C GRCh38
NC_000019.9:g.39063841G>C , CM000681.1:g.39063841G>C GRCh37
NC_000019.8:g.43755681G>C NCBI36
NG_008866.1:g.144502G>C , LRG_766:g.144502G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.959G>C
ENST00000688602.1:c.2356G>C
ENST00000689936.1:c.2328G>C
ENST00000359596.8:c.14023G>C MANE Select ENSP00000352608.2:p.Glu4675Gln
ENST00000355481.8:c.14008G>C ENSP00000347667.3:p.Glu4670Gln
ENST00000359596.7:c.14023G>C ENSP00000352608.2:p.Glu4675Gln
ENST00000360985.7:c.14005G>C ENSP00000354254.4:p.Glu4669Gln
NM_000540.2:c.14023G>C , LRG_766t1:c.14023G>C NP_000531.2:p.Glu4675Gln
NM_001042723.1:c.14008G>C NP_001036188.1:p.Glu4670Gln
XM_006723317.1:c.14005G>C XP_006723380.1:p.Glu4669Gln
XM_006723319.1:c.13990G>C XP_006723382.1:p.Glu4664Gln
XM_011527204.1:c.14020G>C XP_011525506.1:p.Glu4674Gln
XM_011527205.1:c.13936G>C XP_011525507.1:p.Glu4646Gln
XM_006723317.2:c.14005G>C XP_006723380.1:p.Glu4669Gln
XM_006723319.2:c.13990G>C XP_006723382.1:p.Glu4664Gln
XM_011527205.2:c.13936G>C XP_011525507.1:p.Glu4646Gln
NM_000540.3:c.14023G>C MANE Select NP_000531.2:p.Glu4675Gln
NM_001042723.2:c.14008G>C NP_001036188.1:p.Glu4670Gln