Canonical Allele Identifier: CA338391556
Community Standard Title: NM_004958.4(MTOR):c.6322T>C (p.Phe2108Leu)
Gene: MTOR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11127039A>G , CM000663.2:g.11127039A>G GRCh38
NC_000001.10:g.11187096A>G , CM000663.1:g.11187096A>G GRCh37
NC_000001.9:g.11109683A>G NCBI36
NG_033239.1:g.140513T>C , LRG_734:g.140513T>C

Transcript Alleles

HGVS Amino-acid Change
NM_004958.4:c.6322T>C MANE Select NP_004949.1:p.Phe2108Leu
ENST00000361445.9:c.6322T>C MANE Select ENSP00000354558.4:p.Phe2108Leu
NM_001386500.1:c.6322T>C NP_001373429.1:p.Phe2108Leu
NM_001386501.1:c.5074T>C NP_001373430.1:p.Phe1692Leu
NM_004958.3:c.6322T>C , LRG_734t1:c.6322T>C NP_004949.1:p.Phe2108Leu
ENST00000361445.8:c.6322T>C ENSP00000354558.4:p.Phe2108Leu
ENST00000376838.5:c.937T>C ENSP00000366034.1:p.Phe313Leu
ENST00000703118.1:c.*1697T>C ENSP00000515181.1:n.*1697T>C
ENST00000703131.1:n.2323T>C
ENST00000703139.1:c.959T>C
ENST00000703140.1:c.6109T>C ENSP00000515197.1:p.Phe2037Leu
ENST00000703141.1:c.*1839T>C ENSP00000515198.1:n.*1839T>C
ENST00000703142.1:c.*3152T>C ENSP00000515199.1:n.*3152T>C
XM_005263438.1:c.6322T>C XP_005263495.1:p.Phe2108Leu
XM_005263438.2:c.6322T>C XP_005263495.1:p.Phe2108Leu
XM_017000900.1:c.5641T>C XP_016856389.1:p.Phe1881Leu
XM_017000901.1:c.5074T>C XP_016856390.1:p.Phe1692Leu
XM_024446187.1:c.6322T>C XP_024301955.1:p.Phe2108Leu
XR_001737087.1:n.6443T>C
XR_244786.1:n.6443T>C