Canonical Allele Identifier: CA338400368
Gene: MTOR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11248008T>A , CM000663.2:g.11248008T>A GRCh38
NC_000001.10:g.11308065T>A , CM000663.1:g.11308065T>A GRCh37
NC_000001.9:g.11230652T>A NCBI36
NG_033239.1:g.19544A>T , LRG_734:g.19544A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000703118.1:c.927A>T ENSP00000515181.1:p.Lys309Asn
ENST00000703132.1:n.908A>T
ENST00000703140.1:c.927A>T ENSP00000515197.1:p.Lys309Asn
ENST00000703141.1:c.927A>T ENSP00000515198.1:p.Lys309Asn
ENST00000703142.1:c.927A>T ENSP00000515199.1:p.Lys309Asn
ENST00000703143.1:c.927A>T ENSP00000515200.1:p.Lys309Asn
ENST00000361445.9:c.927A>T MANE Select ENSP00000354558.4:p.Lys309Asn
ENST00000361445.8:c.927A>T ENSP00000354558.4:p.Lys309Asn
NM_004958.3:c.927A>T , LRG_734t1:c.927A>T NP_004949.1:p.Lys309Asn
XM_005263438.1:c.927A>T XP_005263495.1:p.Lys309Asn
XM_011541166.1:c.927A>T XP_011539468.1:p.Lys309Asn
XR_244786.1:n.1048A>T
XM_005263438.2:c.927A>T XP_005263495.1:p.Lys309Asn
XM_011541166.2:c.927A>T XP_011539468.1:p.Lys309Asn
XM_017000900.1:c.246A>T XP_016856389.1:p.Lys82Asn
XM_017000901.1:c.-213A>T XP_016856390.1:n.-213A>T
XM_017000902.1:c.927A>T XP_016856391.1:p.Lys309Asn
XM_024446187.1:c.927A>T XP_024301955.1:p.Lys309Asn
XR_001737087.1:n.1048A>T
NM_004958.4:c.927A>T MANE Select NP_004949.1:p.Lys309Asn
NM_001386500.1:c.927A>T NP_001373429.1:p.Lys309Asn
NM_001386501.1:c.-213A>T NP_001373430.1:n.-213A>T