Canonical Allele Identifier: CA1153529995
Community Standard Title: NM_004958.4(MTOR):c.6667C= (p.Gln2223=)
Gene: MTOR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11122122G= , CM000663.2:g.11122122G= GRCh38
NC_000001.10:g.11182179G= , CM000663.1:g.11182179G= GRCh37
NC_000001.9:g.11104766G= NCBI36
NG_033239.1:g.145430C= , LRG_734:g.145430C=

Transcript Alleles

HGVS Amino-acid Change
NM_004958.4:c.6667C= MANE Select NP_004949.1:p.Gln2223=
ENST00000361445.9:c.6667C= MANE Select ENSP00000354558.4:p.Gln2223=
NM_001386500.1:c.6667C= NP_001373429.1:p.Gln2223=
NM_001386501.1:c.5419C= NP_001373430.1:p.Gln1807=
NM_004958.3:c.6667C= , LRG_734t1:c.6667C= NP_004949.1:p.Gln2223=
ENST00000361445.8:c.6667C= ENSP00000354558.4:p.Gln2223=
ENST00000376838.5:c.1282C= ENSP00000366034.1:p.Gln428=
ENST00000703118.1:c.*2042C= ENSP00000515181.1:n.*2042C=
ENST00000703131.1:n.2668C=
ENST00000703139.1:c.1304C=
ENST00000703140.1:c.6454C= ENSP00000515197.1:p.Gln2152=
ENST00000703141.1:c.*2184C= ENSP00000515198.1:n.*2184C=
ENST00000703142.1:c.*3497C= ENSP00000515199.1:n.*3497C=
XM_005263438.1:c.6667C= XP_005263495.1:p.Gln2223=
XM_005263438.2:c.6667C= XP_005263495.1:p.Gln2223=
XM_017000900.1:c.5986C= XP_016856389.1:p.Gln1996=
XM_017000901.1:c.5419C= XP_016856390.1:p.Gln1807=
XM_024446187.1:c.6667C= XP_024301955.1:p.Gln2223=
XR_001737087.1:n.6788C=
XR_244786.1:n.6788C=