Canonical Allele Identifier: CA405692540
Community Standard Title: NM_000540.3(RYR1):c.14866G>C (p.Glu4956Gln)
Gene: RYR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38586000G>C , CM000681.2:g.38586000G>C GRCh38
NC_000019.9:g.39076640G>C , CM000681.1:g.39076640G>C GRCh37
NC_000019.8:g.43768480G>C NCBI36
NG_008866.1:g.157301G>C , LRG_766:g.157301G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000540.3:c.14866G>C MANE Select NP_000531.2:p.Glu4956Gln
ENST00000359596.8:c.14866G>C MANE Select ENSP00000352608.2:p.Glu4956Gln
NM_000540.2:c.14866G>C , LRG_766t1:c.14866G>C NP_000531.2:p.Glu4956Gln
NM_001042723.1:c.14851G>C NP_001036188.1:p.Glu4951Gln
NM_001042723.2:c.14851G>C NP_001036188.1:p.Glu4951Gln
ENST00000355481.8:c.14851G>C ENSP00000347667.3:p.Glu4951Gln
ENST00000359596.7:c.14866G>C ENSP00000352608.2:p.Glu4956Gln
ENST00000360985.7:c.14848G>C ENSP00000354254.4:p.Glu4950Gln
ENST00000593677.2:c.1802G>C
ENST00000688602.1:c.3199G>C
ENST00000689936.1:c.3171G>C
ENST00000692547.1:n.259G>C
XM_006723317.1:c.14848G>C XP_006723380.1:p.Glu4950Gln
XM_006723317.2:c.14848G>C XP_006723380.1:p.Glu4950Gln
XM_006723319.1:c.14833G>C XP_006723382.1:p.Glu4945Gln
XM_006723319.2:c.14833G>C XP_006723382.1:p.Glu4945Gln
XM_011527204.1:c.14863G>C XP_011525506.1:p.Glu4955Gln
XM_011527205.1:c.14779G>C XP_011525507.1:p.Glu4927Gln
XM_011527205.2:c.14779G>C XP_011525507.1:p.Glu4927Gln